esv2422058
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,117
- 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: 142 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422058 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| esv2422058 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| esv2422058 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5017582 | deletion | NA21389 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5026369 | deletion | NA19209 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5029728 | deletion | NA19430 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5032416 | deletion | NA21457 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5038745 | deletion | NA19046 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5039842 | deletion | NA21400 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5066633 | deletion | NA21364 | SNP array | SNP genotyping analysis | 1 | 142 |
| essv5067363 | deletion | NA19404 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5072480 | deletion | NA21632 | SNP array | SNP genotyping analysis | 1 | 142 |
| essv5093978 | deletion | NA21381 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5105664 | deletion | NA21583 | SNP array | SNP genotyping analysis | 1 | 149 |
| essv5110976 | deletion | NA21401 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5117823 | deletion | NA19379 | SNP array | SNP genotyping analysis | 1 | 147 |
| essv5121088 | deletion | NA21611 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5128549 | deletion | NA21387 | SNP array | SNP genotyping analysis | 1 | 115 |
| essv5131086 | deletion | NA21367 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5145175 | deletion | NA21473 | SNP array | SNP genotyping analysis | 1 | 163 |
| essv5146578 | deletion | NA21357 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5153453 | deletion | NA21509 | SNP array | SNP genotyping analysis | 1 | 151 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5017582 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5026369 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5029728 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5032416 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5038745 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5039842 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5066633 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5067363 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5072480 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5093978 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5105664 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5110976 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5117823 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5121088 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5128549 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5131086 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5145175 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5146578 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5153453 | Remapped | Perfect | NC_000022.11:g.(?_ 40477572)_(4048468 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,477,572 | 40,484,688 |
| essv5017582 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5026369 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5029728 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5032416 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5038745 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5039842 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5066633 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5067363 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5072480 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5093978 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5105664 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5110976 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5117823 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5121088 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5128549 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5131086 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5145175 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5146578 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5153453 | Remapped | Perfect | NC_000022.10:g.(?_ 40873576)_(4088069 2_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,873,576 | 40,880,692 |
| essv5017582 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5026369 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5029728 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5032416 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5038745 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5039842 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5066633 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5067363 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5072480 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5093978 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5105664 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5110976 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5117823 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5121088 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5128549 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5131086 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5145175 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5146578 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 | ||
| essv5153453 | Submitted genomic | NC_000022.9:g.(?_3 9203522)_(39210638 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 39,203,522 | 39,210,638 |