esv2763856
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:295,042
- Publication(s):Vogler et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1594 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1594 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 472 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv2763856 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,834,429 | 144,129,470 |
esv2763856 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 144,755,582 | 145,050,623 |
esv2763856 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 144,975,032 | 145,270,073 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7030161 | copy number loss | SW_1252 | SNP array | SNP genotyping analysis | 28 |
essv7030162 | copy number gain | SW_0006 | SNP array | SNP genotyping analysis | 37 |
essv7030163 | copy number loss | SW_0507 | SNP array | SNP genotyping analysis | 34 |
essv7030164 | copy number loss | SW_1068 | SNP array | SNP genotyping analysis | 44 |
essv7030165 | copy number loss | SW_1202 | SNP array | SNP genotyping analysis | 18 |
essv7030166 | copy number loss | SW_1357 | SNP array | SNP genotyping analysis | 36 |
essv7030167 | copy number loss | SW_1040 | SNP array | SNP genotyping analysis | 33 |
essv7030169 | copy number loss | SW_1292 | SNP array | SNP genotyping analysis | 25 |
essv7030170 | copy number gain | SW_0015 | SNP array | SNP genotyping analysis | 33 |
essv7030171 | copy number gain | SW_1463 | SNP array | SNP genotyping analysis | 29 |
essv7030172 | copy number loss | SW_0887 | SNP array | SNP genotyping analysis | 17 |
essv7030173 | copy number gain | SW_0875 | SNP array | SNP genotyping analysis | 30 |
essv7030174 | copy number gain | SW_1092 | SNP array | SNP genotyping analysis | 38 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv7030161 | Remapped | Perfect | NC_000004.12:g.(?_ 143834429)_(144038 174_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,834,429 | 144,038,174 |
essv7030162 | Remapped | Perfect | NC_000004.12:g.(?_ 143882217)_(143996 396_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,882,217 | 143,996,396 |
essv7030163 | Remapped | Perfect | NC_000004.12:g.(?_ 143882217)_(144126 461_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,882,217 | 144,126,461 |
essv7030164 | Remapped | Perfect | NC_000004.12:g.(?_ 143885592)_(144124 407_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,885,592 | 144,124,407 |
essv7030165 | Remapped | Perfect | NC_000004.12:g.(?_ 143920939)_(144005 969_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,920,939 | 144,005,969 |
essv7030166 | Remapped | Perfect | NC_000004.12:g.(?_ 143920939)_(144005 969_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,920,939 | 144,005,969 |
essv7030167 | Remapped | Perfect | NC_000004.12:g.(?_ 143920939)_(144022 456_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,920,939 | 144,022,456 |
essv7030169 | Remapped | Perfect | NC_000004.12:g.(?_ 143995211)_(144111 743_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,995,211 | 144,111,743 |
essv7030170 | Remapped | Perfect | NC_000004.12:g.(?_ 143999622)_(144126 461_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,999,622 | 144,126,461 |
essv7030171 | Remapped | Perfect | NC_000004.12:g.(?_ 144002997)_(144129 470_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 144,002,997 | 144,129,470 |
essv7030172 | Remapped | Perfect | NC_000004.12:g.(?_ 144021663)_(144111 743_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 144,021,663 | 144,111,743 |
essv7030173 | Remapped | Perfect | NC_000004.12:g.(?_ 144036395)_(144111 743_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 144,036,395 | 144,111,743 |
essv7030174 | Remapped | Perfect | NC_000004.12:g.(?_ 144051036)_(144111 743_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 144,051,036 | 144,111,743 |
essv7030161 | Remapped | Perfect | NC_000004.11:g.(?_ 144755582)_(144959 327_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,755,582 | 144,959,327 |
essv7030162 | Remapped | Perfect | NC_000004.11:g.(?_ 144803370)_(144917 549_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,803,370 | 144,917,549 |
essv7030163 | Remapped | Perfect | NC_000004.11:g.(?_ 144803370)_(145047 614_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,803,370 | 145,047,614 |
essv7030164 | Remapped | Perfect | NC_000004.11:g.(?_ 144806745)_(145045 560_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,806,745 | 145,045,560 |
essv7030165 | Remapped | Perfect | NC_000004.11:g.(?_ 144842092)_(144927 122_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,842,092 | 144,927,122 |
essv7030166 | Remapped | Perfect | NC_000004.11:g.(?_ 144842092)_(144927 122_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,842,092 | 144,927,122 |
essv7030167 | Remapped | Perfect | NC_000004.11:g.(?_ 144842092)_(144943 609_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,842,092 | 144,943,609 |
essv7030169 | Remapped | Perfect | NC_000004.11:g.(?_ 144916364)_(145032 896_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,916,364 | 145,032,896 |
essv7030170 | Remapped | Perfect | NC_000004.11:g.(?_ 144920775)_(145047 614_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,920,775 | 145,047,614 |
essv7030171 | Remapped | Perfect | NC_000004.11:g.(?_ 144924150)_(145050 623_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,924,150 | 145,050,623 |
essv7030172 | Remapped | Perfect | NC_000004.11:g.(?_ 144942816)_(145032 896_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,942,816 | 145,032,896 |
essv7030173 | Remapped | Perfect | NC_000004.11:g.(?_ 144957548)_(145032 896_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,957,548 | 145,032,896 |
essv7030174 | Remapped | Perfect | NC_000004.11:g.(?_ 144972189)_(145032 896_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 144,972,189 | 145,032,896 |
essv7030161 | Submitted genomic | NC_000004.10:g.(?_ 144975032)_(145178 777_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 144,975,032 | 145,178,777 | ||
essv7030162 | Submitted genomic | NC_000004.10:g.(?_ 145022820)_(145136 999_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,022,820 | 145,136,999 | ||
essv7030163 | Submitted genomic | NC_000004.10:g.(?_ 145022820)_(145267 064_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,022,820 | 145,267,064 | ||
essv7030164 | Submitted genomic | NC_000004.10:g.(?_ 145026195)_(145265 010_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,026,195 | 145,265,010 | ||
essv7030165 | Submitted genomic | NC_000004.10:g.(?_ 145061542)_(145146 572_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,061,542 | 145,146,572 | ||
essv7030166 | Submitted genomic | NC_000004.10:g.(?_ 145061542)_(145146 572_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,061,542 | 145,146,572 | ||
essv7030167 | Submitted genomic | NC_000004.10:g.(?_ 145061542)_(145163 059_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,061,542 | 145,163,059 | ||
essv7030169 | Submitted genomic | NC_000004.10:g.(?_ 145135814)_(145252 346_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,135,814 | 145,252,346 | ||
essv7030170 | Submitted genomic | NC_000004.10:g.(?_ 145140225)_(145267 064_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,140,225 | 145,267,064 | ||
essv7030171 | Submitted genomic | NC_000004.10:g.(?_ 145143600)_(145270 073_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,143,600 | 145,270,073 | ||
essv7030172 | Submitted genomic | NC_000004.10:g.(?_ 145162266)_(145252 346_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,162,266 | 145,252,346 | ||
essv7030173 | Submitted genomic | NC_000004.10:g.(?_ 145176998)_(145252 346_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,176,998 | 145,252,346 | ||
essv7030174 | Submitted genomic | NC_000004.10:g.(?_ 145191639)_(145252 346_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 145,191,639 | 145,252,346 |