esv2421985
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,952
- 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: 384 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| esv2421985 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| esv2421985 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5004493 | deletion | NA18489 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5005431 | deletion | NA20356 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5012084 | deletion | NA20335 | SNP array | SNP genotyping analysis | 1 | 157 |
| essv5013979 | deletion | NA19473 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5020928 | deletion | NA21415 | SNP array | SNP genotyping analysis | 1 | 153 |
| essv5027056 | deletion | NA19038 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5034937 | deletion | NA21784 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5048296 | deletion | NA18923 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5055021 | deletion | NA19703 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5066594 | deletion | NA19705 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5077750 | deletion | NA19189 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5086715 | deletion | NA18925 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5092217 | deletion | NA19204 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5098287 | deletion | NA20358 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5112035 | deletion | NA19309 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5124972 | deletion | NA19191 | SNP array | SNP genotyping analysis | 1 | 162 |
| essv5125939 | deletion | NA19625 | SNP array | SNP genotyping analysis | 1 | 175 |
| essv5142228 | deletion | NA21368 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5149642 | deletion | NA19711 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5151382 | deletion | NA19180 | SNP array | SNP genotyping analysis | 1 | 165 |
| essv5153997 | deletion | NA19179 | SNP array | SNP genotyping analysis | 1 | 155 |
| essv5156724 | deletion | NA18485 | SNP array | SNP genotyping analysis | 1 | 147 |
| essv5156990 | deletion | NA21597 | SNP array | SNP genotyping analysis | 1 | 129 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5004493 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5005431 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5012084 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5013979 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5020928 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5027056 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5034937 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5048296 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5055021 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5066594 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5077750 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5086715 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5092217 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5098287 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5112035 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5124972 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5125939 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5142228 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5149642 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5151382 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5153997 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5156724 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5156990 | Remapped | Perfect | NC_000013.11:g.(?_ 37513008)_(3754495 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 37,513,008 | 37,544,959 |
| essv5004493 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5005431 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5012084 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5013979 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5020928 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5027056 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5034937 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5048296 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5055021 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5066594 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5077750 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5086715 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5092217 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5098287 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5112035 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5124972 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5125939 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5142228 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5149642 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5151382 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5153997 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5156724 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5156990 | Remapped | Perfect | NC_000013.10:g.(?_ 38087145)_(3811909 6_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,087,145 | 38,119,096 |
| essv5004493 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5005431 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5012084 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5013979 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5020928 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5027056 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5034937 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5048296 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5055021 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5066594 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5077750 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5086715 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5092217 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5098287 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5112035 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5124972 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5125939 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5142228 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5149642 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5151382 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5153997 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5156724 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 | ||
| essv5156990 | Submitted genomic | NC_000013.9:g.(?_3 6985145)_(37017096 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 36,985,145 | 37,017,096 |