Difference between revisions of "Genomics Terminology"

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! Chromosome !! Length<br />(mm) !! Base<br />pairs !! Variations !! Protein<br />coding<br />genes !! Pseudo-<br />genes !! long<br />ncRNA || small<br />ncRNA || miRNA !! rRNA !! snRNA !! snoRNA !! gnomAD<br />exome.vcf !! Links !! Centromere<br />pos (Mbp) || Cumulative<br />(%)
 
! Chromosome !! Length<br />(mm) !! Base<br />pairs !! Variations !! Protein<br />coding<br />genes !! Pseudo-<br />genes !! long<br />ncRNA || small<br />ncRNA || miRNA !! rRNA !! snRNA !! snoRNA !! gnomAD<br />exome.vcf !! Links !! Centromere<br />pos (Mbp) || Cumulative<br />(%)
 
|-
 
|-
Chromosome 1 (human)|1 || 85 ||style="text-align: right;"| 248,956,422 ||style="text-align: right;"| 12,151,146 || 2058 || 1220 || 1200 || 496 || 134 || 66 || 221 || 145 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.1.vcf.bgz 5.77 GiB]|| [https://archive.today/20130414235101/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=1 EBI] || 125 || 7.9
+
[https://en.wikipedia.org/wiki/Chromosome_1 1] || 85 ||style="text-align: right;"| 248,956,422 ||style="text-align: right;"| 12,151,146 || 2058 || 1220 || 1200 || 496 || 134 || 66 || 221 || 145 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.1.vcf.bgz 5.77 GiB]|| [https://archive.today/20130414235101/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=1 EBI] || 125 || 7.9
 
|-
 
|-
Chromosome 2 (human)|2 || 83 ||style="text-align: right;"| 242,193,529 ||style="text-align: right;"| 12,945,965 || 1309 || 1023 || 1037 || 375 || 115 || 40 || 161 || 117 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.2.vcf.bgz 4.20 GiB] || [https://archive.today/20130414170207/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=2 EBI] || 93.3 || 16.2
+
[https://en.wikipedia.org/wiki/Chromosome_2 2] || 83 ||style="text-align: right;"| 242,193,529 ||style="text-align: right;"| 12,945,965 || 1309 || 1023 || 1037 || 375 || 115 || 40 || 161 || 117 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.2.vcf.bgz 4.20 GiB] || [https://archive.today/20130414170207/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=2 EBI] || 93.3 || 16.2
 
|-
 
|-
Chromosome 3 (human)|3 || 67 ||style="text-align: right;"| 198,295,559 ||style="text-align: right;"| 10,638,715 || 1078 || 763 || 711 || 298 || 99 || 29 || 138 || 87 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.3.vcf.bgz 3.29 GiB] || [https://archive.today/20130414155057/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=3 EBI] || 91 || 23
+
[https://en.wikipedia.org/wiki/Chromosome_3 3] || 67 ||style="text-align: right;"| 198,295,559 ||style="text-align: right;"| 10,638,715 || 1078 || 763 || 711 || 298 || 99 || 29 || 138 || 87 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.3.vcf.bgz 3.29 GiB] || [https://archive.today/20130414155057/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=3 EBI] || 91 || 23
 
|-
 
|-
Chromosome 4 (human)|4 || 65 ||style="text-align: right;"| 190,214,555 ||style="text-align: right;"| 10,165,685 || 752 || 727 || 657 || 228 || 92 || 24 || 120 || 56 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.4.vcf.bgz 2.17 GiB] || [https://archive.today/20130414184734/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=4 EBI] || 50.4 || 29.6
+
[https://en.wikipedia.org/wiki/Chromosome_4 4] || 65 ||style="text-align: right;"| 190,214,555 ||style="text-align: right;"| 10,165,685 || 752 || 727 || 657 || 228 || 92 || 24 || 120 || 56 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.4.vcf.bgz 2.17 GiB] || [https://archive.today/20130414184734/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=4 EBI] || 50.4 || 29.6
 
|-
 
|-
Chromosome 5 (human)|5 || 62 ||style="text-align: right;"| 181,538,259 ||style="text-align: right;"| 9,519,995 || 876 || 721 || 844 || 235 || 83 || 25 || 106 || 61 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.5.vcf.bgz 2.51 GiB] || [https://archive.today/20130414165438/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=5 EBI] || 48.4 || 35.8
+
[https://en.wikipedia.org/wiki/Chromosome_5 5] || 62 ||style="text-align: right;"| 181,538,259 ||style="text-align: right;"| 9,519,995 || 876 || 721 || 844 || 235 || 83 || 25 || 106 || 61 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.5.vcf.bgz 2.51 GiB] || [https://archive.today/20130414165438/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=5 EBI] || 48.4 || 35.8
 
|-
 
|-
Chromosome 6 (human)|6 || 58 ||style="text-align: right;"| 170,805,979 ||style="text-align: right;"| 9,130,476 || 1048 || 801 || 639 || 234 || 81 || 26 || 111 || 73 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.6.vcf.bgz 2.83 GiB] || [https://archive.today/20130414210620/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=6 EBI] || 61 || 41.6
+
[https://en.wikipedia.org/wiki/Chromosome_6 6] || 58 ||style="text-align: right;"| 170,805,979 ||style="text-align: right;"| 9,130,476 || 1048 || 801 || 639 || 234 || 81 || 26 || 111 || 73 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.6.vcf.bgz 2.83 GiB] || [https://archive.today/20130414210620/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=6 EBI] || 61 || 41.6
 
|-
 
|-
Chromosome 7 (human)|7 || 54 ||style="text-align: right;"| 159,345,973 ||style="text-align: right;"| 8,613,298 || 989 || 885 || 605 || 208 || 90 || 24 || 90 || 76 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.7.vcf.bgz 2.88 GiB] || [https://archive.today/20130414191348/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=7 EBI] || 59.9 || 47.1
+
[https://en.wikipedia.org/wiki/Chromosome_7 7] || 54 ||style="text-align: right;"| 159,345,973 ||style="text-align: right;"| 8,613,298 || 989 || 885 || 605 || 208 || 90 || 24 || 90 || 76 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.7.vcf.bgz 2.88 GiB] || [https://archive.today/20130414191348/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=7 EBI] || 59.9 || 47.1
 
|-
 
|-
Chromosome 8 (human)|8 || 50 ||style="text-align: right;"| 145,138,636 ||style="text-align: right;"| 8,221,520 || 677 || 613 || 735 || 214 || 80 || 28 || 86 || 52 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.8.vcf.bgz 2.13 GiB] || [https://archive.today/20130414151536/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=8 EBI] || 45.6 || 52
+
[https://en.wikipedia.org/wiki/Chromosome_8 8] || 50 ||style="text-align: right;"| 145,138,636 ||style="text-align: right;"| 8,221,520 || 677 || 613 || 735 || 214 || 80 || 28 || 86 || 52 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.8.vcf.bgz 2.13 GiB] || [https://archive.today/20130414151536/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=8 EBI] || 45.6 || 52
 
|-
 
|-
Chromosome 9 (human)|9 || 48 ||style="text-align: right;"| 138,394,717 ||style="text-align: right;"| 6,590,811 || 786 || 661 || 491 || 190 || 69 || 19 || 66 || 51 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.9.vcf.bgz 2.40 GiB] || [https://archive.today/20130414154313/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=9 EBI] || 49 || 56.3
+
[https://en.wikipedia.org/wiki/Chromosome_9 9] || 48 ||style="text-align: right;"| 138,394,717 ||style="text-align: right;"| 6,590,811 || 786 || 661 || 491 || 190 || 69 || 19 || 66 || 51 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.9.vcf.bgz 2.40 GiB] || [https://archive.today/20130414154313/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=9 EBI] || 49 || 56.3
 
|-
 
|-
Chromosome 10 (human)|10 || 46 ||style="text-align: right;"| 133,797,422 ||style="text-align: right;"| 7,223,944 || 733 || 568 || 579 || 204 || 64 || 32 || 87 || 56 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.10.vcf.bgz 2.23 GiB] || [https://archive.today/20130414155104/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=10 EBI] || 40.2 || 60.9
+
[https://en.wikipedia.org/wiki/Chromosome_10 10] || 46 ||style="text-align: right;"| 133,797,422 ||style="text-align: right;"| 7,223,944 || 733 || 568 || 579 || 204 || 64 || 32 || 87 || 56 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.10.vcf.bgz 2.23 GiB] || [https://archive.today/20130414155104/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=10 EBI] || 40.2 || 60.9
 
|-
 
|-
Chromosome 11 (human)|11 || 46 ||style="text-align: right;"| 135,086,622 ||style="text-align: right;"| 7,535,370 || 1298 || 821 || 710 || 233 || 63 || 24 || 74 || 76 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.11.vcf.bgz 3.61 GiB] || [https://archive.today/20130414155450/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=11 EBI] || 53.7 || 65.4
+
[https://en.wikipedia.org/wiki/Chromosome_11 11] || 46 ||style="text-align: right;"| 135,086,622 ||style="text-align: right;"| 7,535,370 || 1298 || 821 || 710 || 233 || 63 || 24 || 74 || 76 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.11.vcf.bgz 3.61 GiB] || [https://archive.today/20130414155450/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=11 EBI] || 53.7 || 65.4
 
|-
 
|-
Chromosome 12 (human)|12 || 45 ||style="text-align: right;"| 133,275,309 ||style="text-align: right;"| 7,228,129 || 1034 || 617 || 848 || 227 || 72 || 27 || 106 || 62 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.12.vcf.bgz 3.07 GiB] || [https://archive.today/20130414163842/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=12 EBI] || 35.8 || 70
+
[https://en.wikipedia.org/wiki/Chromosome_12 12] || 45 ||style="text-align: right;"| 133,275,309 ||style="text-align: right;"| 7,228,129 || 1034 || 617 || 848 || 227 || 72 || 27 || 106 || 62 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.12.vcf.bgz 3.07 GiB] || [https://archive.today/20130414163842/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=12 EBI] || 35.8 || 70
 
|-
 
|-
Chromosome 13 (human)|13 || 39 ||style="text-align: right;"| 114,364,328 ||style="text-align: right;"| 5,082,574 || 327 || 372 || 397 || 104 || 42 || 16 || 45 || 34 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.13.vcf.bgz 0.98 GiB] || [https://archive.today/20130414153908/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=13 EBI] || 17.9 || 73.4
+
[https://en.wikipedia.org/wiki/Chromosome_13 13] || 39 ||style="text-align: right;"| 114,364,328 ||style="text-align: right;"| 5,082,574 || 327 || 372 || 397 || 104 || 42 || 16 || 45 || 34 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.13.vcf.bgz 0.98 GiB] || [https://archive.today/20130414153908/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=13 EBI] || 17.9 || 73.4
 
|-
 
|-
Chromosome 14 (human)|14 || 36 ||style="text-align: right;"| 107,043,718 ||style="text-align: right;"| 4,865,950 || 830 || 523 || 533 || 239 || 92 || 10 || 65 || 97 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.14.vcf.bgz 2.02 GiB] || [https://archive.today/20130414221716/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=14 EBI] || 17.6 || 76.4
+
[https://en.wikipedia.org/wiki/Chromosome_14 14] || 36 ||style="text-align: right;"| 107,043,718 ||style="text-align: right;"| 4,865,950 || 830 || 523 || 533 || 239 || 92 || 10 || 65 || 97 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.14.vcf.bgz 2.02 GiB] || [https://archive.today/20130414221716/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=14 EBI] || 17.6 || 76.4
 
|-
 
|-
Chromosome 15 (human)|15 || 35 ||style="text-align: right;"| 101,991,189 ||style="text-align: right;"| 4,515,076 || 613 || 510 || 639 || 250 || 78 || 13 || 63 || 136 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.15.vcf.bgz 2.08 GiB] || [https://archive.today/20130414185000/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=15 EBI] || 19 || 79.3
+
[https://en.wikipedia.org/wiki/Chromosome_15 15] || 35 ||style="text-align: right;"| 101,991,189 ||style="text-align: right;"| 4,515,076 || 613 || 510 || 639 || 250 || 78 || 13 || 63 || 136 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.15.vcf.bgz 2.08 GiB] || [https://archive.today/20130414185000/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=15 EBI] || 19 || 79.3
 
|-
 
|-
Chromosome 16 (human)|16 || 31 ||style="text-align: right;"|90,338,345 || style="text-align: right;"|5,101,702 || 873 || 465 || 799 || 187 || 52 || 32 || 53 || 58 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.16.vcf.bgz 3.04 GiB] || [https://archive.today/20130414182905/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=16 EBI] || 36.6 || 82
+
[https://en.wikipedia.org/wiki/Chromosome_16 16] || 31 ||style="text-align: right;"|90,338,345 || style="text-align: right;"|5,101,702 || 873 || 465 || 799 || 187 || 52 || 32 || 53 || 58 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.16.vcf.bgz 3.04 GiB] || [https://archive.today/20130414182905/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=16 EBI] || 36.6 || 82
 
|-
 
|-
Chromosome 17 (human)|17 || 28 ||style="text-align: right;"| 83,257,441 ||style="text-align: right;"| 4,614,972 || 1197 || 531 || 834 || 235 || 61 || 15 || 80 || 71 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.17.vcf.bgz 3.62 GiB] || [https://archive.today/20130414171249/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=17 EBI] || 24 || 84.8
+
[https://en.wikipedia.org/wiki/Chromosome_17 17] || 28 ||style="text-align: right;"| 83,257,441 ||style="text-align: right;"| 4,614,972 || 1197 || 531 || 834 || 235 || 61 || 15 || 80 || 71 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.17.vcf.bgz 3.62 GiB] || [https://archive.today/20130414171249/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=17 EBI] || 24 || 84.8
 
|-
 
|-
Chromosome 18 (human)|18 || 27 ||style="text-align: right;"| 80,373,285 ||style="text-align: right;"| 4,035,966 || 270 || 247 || 453 || 109 || 32 || 13 || 51 || 36 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.18.vcf.bgz 0.88 GiB] || [https://archive.today/20130414160719/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=18 EBI] || 17.2 || 87.4
+
[https://en.wikipedia.org/wiki/Chromosome_18 18] || 27 ||style="text-align: right;"| 80,373,285 ||style="text-align: right;"| 4,035,966 || 270 || 247 || 453 || 109 || 32 || 13 || 51 || 36 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.18.vcf.bgz 0.88 GiB] || [https://archive.today/20130414160719/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=18 EBI] || 17.2 || 87.4
 
|-
 
|-
Chromosome 19 (human)|19 || 20 ||style="text-align: right;"| 58,617,616 ||style="text-align: right;"| 3,858,269 || 1472 || 512 || 628 || 179 || 110 || 13 || 29 || 31 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.19.vcf.bgz 4.30 GiB] || [https://archive.today/20130414165626/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=19 EBI] || 26.5 || 89.3
+
[https://en.wikipedia.org/wiki/Chromosome_19 19] || 20 ||style="text-align: right;"| 58,617,616 ||style="text-align: right;"| 3,858,269 || 1472 || 512 || 628 || 179 || 110 || 13 || 29 || 31 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.19.vcf.bgz 4.30 GiB] || [https://archive.today/20130414165626/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=19 EBI] || 26.5 || 89.3
 
|-
 
|-
Chromosome 20 (human)|20 || 21 ||style="text-align: right;"| 64,444,167 ||style="text-align: right;"| 3,439,621 || 544 || 249 || 384 || 131 || 57 || 15 || 46 || 37 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.20.vcf.bgz 1.44 GiB] || [https://archive.today/20130414185621/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=20 EBI] || 27.5 || 91.4
+
[https://en.wikipedia.org/wiki/Chromosome_20 20] || 21 ||style="text-align: right;"| 64,444,167 ||style="text-align: right;"| 3,439,621 || 544 || 249 || 384 || 131 || 57 || 15 || 46 || 37 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.20.vcf.bgz 1.44 GiB] || [https://archive.today/20130414185621/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=20 EBI] || 27.5 || 91.4
 
|-
 
|-
Chromosome 21 (human)|21 || 16 ||style="text-align: right;"| 46,709,983 ||style="text-align: right;"| 2,049,697 || 234 || 185 || 305 || 71 || 16 || 5 || 21 || 19 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.21.vcf.bgz 0.65 GiB] || [https://archive.today/20130414191700/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=21 EBI] || 13.2 || 92.6
+
[https://en.wikipedia.org/wiki/Chromosome_21 21] || 16 ||style="text-align: right;"| 46,709,983 ||style="text-align: right;"| 2,049,697 || 234 || 185 || 305 || 71 || 16 || 5 || 21 || 19 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.21.vcf.bgz 0.65 GiB] || [https://archive.today/20130414191700/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=21 EBI] || 13.2 || 92.6
 
|-
 
|-
Chromosome 22 (human)|22 || 17 ||style="text-align: right;"| 50,818,468 ||style="text-align: right;"| 2,135,311 || 488 || 324 || 357 || 78 || 31 || 5 || 23 || 23 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.22.vcf.bgz 1.43 GiB] || [https://archive.today/20130414213655/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=22 EBI] || 14.7 || 93.8
+
[https://en.wikipedia.org/wiki/Chromosome_22 22] || 17 ||style="text-align: right;"| 50,818,468 ||style="text-align: right;"| 2,135,311 || 488 || 324 || 357 || 78 || 31 || 5 || 23 || 23 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.22.vcf.bgz 1.43 GiB] || [https://archive.today/20130414213655/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=22 EBI] || 14.7 || 93.8
 
|-
 
|-
|  X chromosome|X || 53 ||style="text-align: right;"| 156,040,895 ||style="text-align: right;"| 5,753,881 || 842 || 874 || 271 || 258 || 128 || 22 || 85 || 64 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.X.vcf.bgz 1.33 GiB] || [https://archive.today/20130414192751/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=X EBI] || 60.6 || 99.1
+
[https://en.wikipedia.org/wiki/X_chromosome X] || 53 ||style="text-align: right;"| 156,040,895 ||style="text-align: right;"| 5,753,881 || 842 || 874 || 271 || 258 || 128 || 22 || 85 || 64 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.X.vcf.bgz 1.33 GiB] || [https://archive.today/20130414192751/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=X EBI] || 60.6 || 99.1
 
|-
 
|-
|  Y chromosome|Y || 20 ||style="text-align: right;"| 57,227,415 ||style="text-align: right;"| 211,643 || 71 || 388 || 71 || 30 || 15 || 7 || 17 || 3 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.Y.vcf.bgz 15.66 GiB] || [https://archive.today/20130414161928/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=Y EBI] || 10.4 || 100
+
[https://en.wikipedia.org/wiki/Y_chromosome Y] || 20 ||style="text-align: right;"| 57,227,415 ||style="text-align: right;"| 211,643 || 71 || 388 || 71 || 30 || 15 || 7 || 17 || 3 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.Y.vcf.bgz 15.66 GiB] || [https://archive.today/20130414161928/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=Y EBI] || 10.4 || 100
 
|-
 
|-
Mitochondrial DNA|mtDNA || 0.0054 ||style="text-align: right;"| 16,569 ||style="text-align: right;"| 929 || 13 || 0 || 0 || 24 || 0 || 2 || 0 || 0 || NA || [https://archive.today/20130414220526/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=MT EBI] || N/A || 100
+
[https://en.wikipedia.org/wiki/Category:Human_mitochondrial_genes mtDNA] || 0.0054 ||style="text-align: right;"| 16,569 ||style="text-align: right;"| 929 || 13 || 0 || 0 || 24 || 0 || 2 || 0 || 0 || NA || [https://archive.today/20130414220526/http://useast.ensembl.org/Homo_sapiens/Location/Chromosome?r=MT EBI] || N/A || 100
 
|-
 
|-
|  total || ||style="text-align: right;"| 3,088,286,401 ||style="text-align: right;"| 155,630,645 || 20412 || 14600 || 14727 || 5037 || 1756 || 532 || 1944 || 1521 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.vcf.bgz 58.81 GiB] ||  ||  ||  
+
[https://en.wikipedia.org/wiki/Category:Genes_by_human_chromosome total] || ||style="text-align: right;"| 3,088,286,401 ||style="text-align: right;"| 155,630,645 || 20412 || 14600 || 14727 || 5037 || 1756 || 532 || 1944 || 1521 || [https://storage.googleapis.com/gnomad-public/release/2.1.1/vcf/exomes/gnomad.exomes.r2.1.1.sites.vcf.bgz 58.81 GiB] ||  ||  ||  
 
|}
 
|}
  
 
'''Table 1''' (above) summarizes the physical organization and gene content of the human reference genome, with links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute (EBI) and Wellcome Trust Sanger Institute. Chromosome lengths were estimated by multiplying the number of base pairs by 0.34 nanometers, the distance between base pairs in the DNA double helix. A recent estimation of human chromosome lengths based on updated data reports 205.00&nbsp;cm for the diploid male genome and 208.23&nbsp;cm for female, corresponding to weights of 6.41 and 6.51 picograms (pg), respectively. The number of proteins is based on the number of initial precursor mRNA transcripts, and does not include products of alternative pre-mRNA splicing, or modifications to protein structure that occur after translation.
 
'''Table 1''' (above) summarizes the physical organization and gene content of the human reference genome, with links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute (EBI) and Wellcome Trust Sanger Institute. Chromosome lengths were estimated by multiplying the number of base pairs by 0.34 nanometers, the distance between base pairs in the DNA double helix. A recent estimation of human chromosome lengths based on updated data reports 205.00&nbsp;cm for the diploid male genome and 208.23&nbsp;cm for female, corresponding to weights of 6.41 and 6.51 picograms (pg), respectively. The number of proteins is based on the number of initial precursor mRNA transcripts, and does not include products of alternative pre-mRNA splicing, or modifications to protein structure that occur after translation.
 
 
  
 
== human genes (count) ==
 
== human genes (count) ==

Revision as of 23:00, 28 October 2020


proband

A proband is an individual serving as the starting point for the genetic study of a family (used especially in medicine). A proband is usually the first affected individual in a family who brings a genetic disorder to the attention of the medical community.


trio analysis

A trio refers to 2 parents + 1 offspring (2 + 1 = 3, hence trio). In medical genetics, trio analysis often means the analysis of a proband's genome and along with their parents genome. An exome trio-based approach is fundamental to the identification of heterozygous dominant pathogenic variants (in an afflicted proband and their unaffected parents).



human genome

The total length of the human genome is over 3 billion base pairs. The genome is organized into 22 paired chromosomes, termed autosomes, plus the 23rd pair of sex chromosomes (XX) in the female, and (XY) in the male. These are all large linear DNA molecules contained within the cell nucleus. The genome also includes the mitochondrial DNA, a comparatively small circular molecule present in each mitochondrion. Basic information about these molecules and their gene content, based on a reference genome that does not represent the sequence of any specific individual, are provided in the following table.

Chromosome Length
(mm)
Base
pairs
Variations Protein
coding
genes
Pseudo-
genes
long
ncRNA
small
ncRNA
miRNA rRNA snRNA snoRNA gnomAD
exome.vcf
Links Centromere
pos (Mbp)
Cumulative
(%)
1 85 248,956,422 12,151,146 2058 1220 1200 496 134 66 221 145 5.77 GiB EBI 125 7.9
2 83 242,193,529 12,945,965 1309 1023 1037 375 115 40 161 117 4.20 GiB EBI 93.3 16.2
3 67 198,295,559 10,638,715 1078 763 711 298 99 29 138 87 3.29 GiB EBI 91 23
4 65 190,214,555 10,165,685 752 727 657 228 92 24 120 56 2.17 GiB EBI 50.4 29.6
5 62 181,538,259 9,519,995 876 721 844 235 83 25 106 61 2.51 GiB EBI 48.4 35.8
6 58 170,805,979 9,130,476 1048 801 639 234 81 26 111 73 2.83 GiB EBI 61 41.6
7 54 159,345,973 8,613,298 989 885 605 208 90 24 90 76 2.88 GiB EBI 59.9 47.1
8 50 145,138,636 8,221,520 677 613 735 214 80 28 86 52 2.13 GiB EBI 45.6 52
9 48 138,394,717 6,590,811 786 661 491 190 69 19 66 51 2.40 GiB EBI 49 56.3
10 46 133,797,422 7,223,944 733 568 579 204 64 32 87 56 2.23 GiB EBI 40.2 60.9
11 46 135,086,622 7,535,370 1298 821 710 233 63 24 74 76 3.61 GiB EBI 53.7 65.4
12 45 133,275,309 7,228,129 1034 617 848 227 72 27 106 62 3.07 GiB EBI 35.8 70
13 39 114,364,328 5,082,574 327 372 397 104 42 16 45 34 0.98 GiB EBI 17.9 73.4
14 36 107,043,718 4,865,950 830 523 533 239 92 10 65 97 2.02 GiB EBI 17.6 76.4
15 35 101,991,189 4,515,076 613 510 639 250 78 13 63 136 2.08 GiB EBI 19 79.3
16 31 90,338,345 5,101,702 873 465 799 187 52 32 53 58 3.04 GiB EBI 36.6 82
17 28 83,257,441 4,614,972 1197 531 834 235 61 15 80 71 3.62 GiB EBI 24 84.8
18 27 80,373,285 4,035,966 270 247 453 109 32 13 51 36 0.88 GiB EBI 17.2 87.4
19 20 58,617,616 3,858,269 1472 512 628 179 110 13 29 31 4.30 GiB EBI 26.5 89.3
20 21 64,444,167 3,439,621 544 249 384 131 57 15 46 37 1.44 GiB EBI 27.5 91.4
21 16 46,709,983 2,049,697 234 185 305 71 16 5 21 19 0.65 GiB EBI 13.2 92.6
22 17 50,818,468 2,135,311 488 324 357 78 31 5 23 23 1.43 GiB EBI 14.7 93.8
X 53 156,040,895 5,753,881 842 874 271 258 128 22 85 64 1.33 GiB EBI 60.6 99.1
Y 20 57,227,415 211,643 71 388 71 30 15 7 17 3 15.66 GiB EBI 10.4 100
mtDNA 0.0054 16,569 929 13 0 0 24 0 2 0 0 NA EBI N/A 100
total 3,088,286,401 155,630,645 20412 14600 14727 5037 1756 532 1944 1521 58.81 GiB

Table 1 (above) summarizes the physical organization and gene content of the human reference genome, with links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute (EBI) and Wellcome Trust Sanger Institute. Chromosome lengths were estimated by multiplying the number of base pairs by 0.34 nanometers, the distance between base pairs in the DNA double helix. A recent estimation of human chromosome lengths based on updated data reports 205.00 cm for the diploid male genome and 208.23 cm for female, corresponding to weights of 6.41 and 6.51 picograms (pg), respectively. The number of proteins is based on the number of initial precursor mRNA transcripts, and does not include products of alternative pre-mRNA splicing, or modifications to protein structure that occur after translation.

human genes (count)

The number of genes in the human genome (see: full gene list) is not entirely clear because the function of numerous transcripts remains unclear. This is especially true for non-coding RNA (see below). The number of protein-coding genes is better known but there are still on the order of 1,400 questionable genes which may or may not encode functional proteins, usually encoded by short open reading frames. Table 2 gives estimates from various projects and shows these discrepancies.

Table 2. Number of human genes
(according to different databases)
Gencode Ensemble Refseq CHESS
protein-coding genes 19,901 20,376 20,345 21,306
lncRNA genes 15,779 14,720 17,712 18,484
antisense RNA 5501 28 2694
miscellaneous RNA 2213 2222 13,899 4347
Pseudogenes 14,723 1740 15,952
total transcripts 203,835 203,903 154,484 328,827