esv2763680
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,801
- 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: 249 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 255 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 73 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2763680 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 215,682,541 | 215,697,341 |
| esv2763680 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 215,855,883 | 215,870,683 |
| esv2763680 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 213,922,506 | 213,937,306 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7005545 | copy number loss | SW_1165 | SNP array | SNP genotyping analysis | 32 |
| essv7005556 | copy number loss | SW_0147 | SNP array | SNP genotyping analysis | 33 |
| essv7005567 | copy number loss | SW_0215 | SNP array | SNP genotyping analysis | 36 |
| essv7005578 | copy number loss | SW_0678 | SNP array | SNP genotyping analysis | 29 |
| essv7005589 | copy number loss | SW_0844 | SNP array | SNP genotyping analysis | 31 |
| essv7005600 | copy number loss | SW_1088 | SNP array | SNP genotyping analysis | 37 |
| essv7005611 | copy number loss | SW_1149 | SNP array | SNP genotyping analysis | 34 |
| essv7005622 | copy number loss | SW_1243 | SNP array | SNP genotyping analysis | 31 |
| essv7005634 | copy number loss | SW_0871 | SNP array | SNP genotyping analysis | 29 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7005545 | Remapped | Perfect | NC_000001.11:g.(?_ 215682541)_(215688 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,682,541 | 215,688,763 |
| essv7005556 | Remapped | Perfect | NC_000001.11:g.(?_ 215684851)_(215688 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,684,851 | 215,688,763 |
| essv7005567 | Remapped | Perfect | NC_000001.11:g.(?_ 215684851)_(215688 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,684,851 | 215,688,763 |
| essv7005578 | Remapped | Perfect | NC_000001.11:g.(?_ 215684851)_(215688 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,684,851 | 215,688,763 |
| essv7005589 | Remapped | Perfect | NC_000001.11:g.(?_ 215684851)_(215688 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,684,851 | 215,688,763 |
| essv7005600 | Remapped | Perfect | NC_000001.11:g.(?_ 215684851)_(215688 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,684,851 | 215,688,763 |
| essv7005611 | Remapped | Perfect | NC_000001.11:g.(?_ 215684851)_(215688 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,684,851 | 215,688,763 |
| essv7005622 | Remapped | Perfect | NC_000001.11:g.(?_ 215684851)_(215688 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,684,851 | 215,688,763 |
| essv7005634 | Remapped | Perfect | NC_000001.11:g.(?_ 215684851)_(215697 341_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,684,851 | 215,697,341 |
| essv7005545 | Remapped | Perfect | NC_000001.10:g.(?_ 215855883)_(215862 105_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,855,883 | 215,862,105 |
| essv7005556 | Remapped | Perfect | NC_000001.10:g.(?_ 215858193)_(215862 105_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,858,193 | 215,862,105 |
| essv7005567 | Remapped | Perfect | NC_000001.10:g.(?_ 215858193)_(215862 105_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,858,193 | 215,862,105 |
| essv7005578 | Remapped | Perfect | NC_000001.10:g.(?_ 215858193)_(215862 105_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,858,193 | 215,862,105 |
| essv7005589 | Remapped | Perfect | NC_000001.10:g.(?_ 215858193)_(215862 105_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,858,193 | 215,862,105 |
| essv7005600 | Remapped | Perfect | NC_000001.10:g.(?_ 215858193)_(215862 105_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,858,193 | 215,862,105 |
| essv7005611 | Remapped | Perfect | NC_000001.10:g.(?_ 215858193)_(215862 105_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,858,193 | 215,862,105 |
| essv7005622 | Remapped | Perfect | NC_000001.10:g.(?_ 215858193)_(215862 105_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,858,193 | 215,862,105 |
| essv7005634 | Remapped | Perfect | NC_000001.10:g.(?_ 215858193)_(215870 683_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 215,858,193 | 215,870,683 |
| essv7005545 | Submitted genomic | NC_000001.9:g.(?_2 13922506)_(2139287 28_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,922,506 | 213,928,728 | ||
| essv7005556 | Submitted genomic | NC_000001.9:g.(?_2 13924816)_(2139287 28_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,924,816 | 213,928,728 | ||
| essv7005567 | Submitted genomic | NC_000001.9:g.(?_2 13924816)_(2139287 28_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,924,816 | 213,928,728 | ||
| essv7005578 | Submitted genomic | NC_000001.9:g.(?_2 13924816)_(2139287 28_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,924,816 | 213,928,728 | ||
| essv7005589 | Submitted genomic | NC_000001.9:g.(?_2 13924816)_(2139287 28_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,924,816 | 213,928,728 | ||
| essv7005600 | Submitted genomic | NC_000001.9:g.(?_2 13924816)_(2139287 28_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,924,816 | 213,928,728 | ||
| essv7005611 | Submitted genomic | NC_000001.9:g.(?_2 13924816)_(2139287 28_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,924,816 | 213,928,728 | ||
| essv7005622 | Submitted genomic | NC_000001.9:g.(?_2 13924816)_(2139287 28_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,924,816 | 213,928,728 | ||
| essv7005634 | Submitted genomic | NC_000001.9:g.(?_2 13924816)_(2139373 06_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 213,924,816 | 213,937,306 |