esv2421874
- 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:40,392
- 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: 404 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421874 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| esv2421874 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| esv2421874 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5009488 | deletion | NA20790 | SNP array | SNP genotyping analysis | 1 | 122 |
| essv5018539 | deletion | NA12739 | SNP array | SNP genotyping analysis | 1 | 119 |
| essv5024532 | deletion | NA12264 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5048375 | deletion | NA19653 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5058406 | deletion | NA21367 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5079648 | deletion | NA10859 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5081123 | deletion | NA11830 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5089566 | deletion | NA11881 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5110345 | deletion | NA19669 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5115947 | deletion | NA21378 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5120521 | deletion | NA11894 | SNP array | SNP genotyping analysis | 1 | 122 |
| essv5122303 | deletion | NA12748 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5137592 | deletion | NA20517 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5143553 | deletion | NA19783 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5153190 | deletion | NA20588 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5154087 | deletion | NA19651 | SNP array | SNP genotyping analysis | 1 | 156 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5009488 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5018539 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5024532 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5048375 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5058406 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5079648 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5081123 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5089566 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5110345 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5115947 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5120521 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5122303 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5137592 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5143553 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5153190 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5154087 | Remapped | Perfect | NC_000003.12:g.(?_ 165323760)_(165364 151_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,760 | 165,364,151 |
| essv5009488 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5018539 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5024532 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5048375 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5058406 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5079648 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5081123 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5089566 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5110345 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5115947 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5120521 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5122303 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5137592 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5143553 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5153190 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5154087 | Remapped | Perfect | NC_000003.11:g.(?_ 165041548)_(165081 939_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,041,548 | 165,081,939 |
| essv5009488 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5018539 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5024532 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5048375 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5058406 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5079648 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5081123 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5089566 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5110345 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5115947 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5120521 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5122303 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5137592 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5143553 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5153190 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 | ||
| essv5154087 | Submitted genomic | NC_000003.10:g.(?_ 166524242)_(166564 633_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,524,242 | 166,564,633 |