esv2422088
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,931
- Publication(s):International HapMap 3 Consortium 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: 921 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 921 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2422088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| esv2422088 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| esv2422088 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5024280 | deletion | NA19077 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5031073 | deletion | NA19001 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5044041 | deletion | NA18973 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5046074 | deletion | NA12057 | SNP array | SNP genotyping analysis | 1 | 127 |
| essv5063522 | deletion | NA20892 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5070201 | deletion | NA20854 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5070733 | deletion | NA19005 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5076184 | deletion | NA18562 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5077083 | deletion | NA18948 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5089124 | deletion | NA19010 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5098701 | deletion | NA18570 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5100275 | deletion | NA07037 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5112177 | deletion | NA19067 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5124554 | deletion | NA20856 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5142898 | deletion | NA19080 | SNP array | SNP genotyping analysis | 1 | 118 |
| essv5143146 | deletion | NA19054 | SNP array | SNP genotyping analysis | 1 | 133 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5024280 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5031073 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5044041 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5046074 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5063522 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5070201 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5070733 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5076184 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5077083 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5089124 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5098701 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5100275 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5112177 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5124554 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5142898 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5143146 | Remapped | Perfect | NC_000007.14:g.(?_ 111397369)_(111402 299_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,397,369 | 111,402,299 |
| essv5024280 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5031073 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5044041 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5046074 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5063522 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5070201 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5070733 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5076184 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5077083 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5089124 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5098701 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5100275 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5112177 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5124554 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5142898 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5143146 | Remapped | Perfect | NC_000007.13:g.(?_ 111037425)_(111042 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,037,425 | 111,042,355 |
| essv5024280 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5031073 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5044041 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5046074 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5063522 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5070201 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5070733 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5076184 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5077083 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5089124 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5098701 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5100275 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5112177 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5124554 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5142898 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 | ||
| essv5143146 | Submitted genomic | NC_000007.12:g.(?_ 110824661)_(110829 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,824,661 | 110,829,591 |