esv2421660
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,387
- 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: 304 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| esv2421660 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| esv2421660 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5011540 | duplication | NA21361 | SNP array | SNP genotyping analysis | 3 | 126 |
| essv5028499 | duplication | NA19197 | SNP array | SNP genotyping analysis | 3 | 165 |
| essv5040518 | duplication | NA20363 | SNP array | SNP genotyping analysis | 3 | 131 |
| essv5041324 | duplication | NA21307 | SNP array | SNP genotyping analysis | 3 | 140 |
| essv5050620 | duplication | NA19208 | SNP array | SNP genotyping analysis | 3 | 144 |
| essv5060327 | duplication | NA18599 | SNP array | SNP genotyping analysis | 3 | 140 |
| essv5065963 | duplication | NA20359 | SNP array | SNP genotyping analysis | 3 | 139 |
| essv5086424 | duplication | NA12044 | SNP array | SNP genotyping analysis | 3 | 128 |
| essv5105044 | duplication | NA19207 | SNP array | SNP genotyping analysis | 3 | 133 |
| essv5106152 | duplication | NA19131 | SNP array | SNP genotyping analysis | 3 | 137 |
| essv5123181 | duplication | NA19176 | SNP array | SNP genotyping analysis | 3 | 162 |
| essv5130916 | duplication | NA21309 | SNP array | SNP genotyping analysis | 3 | 137 |
| essv5151875 | duplication | NA21360 | SNP array | SNP genotyping analysis | 3 | 135 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5011540 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5028499 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5040518 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5041324 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5050620 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5060327 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5065963 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5086424 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5105044 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5106152 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5123181 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5130916 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5151875 | Remapped | Perfect | NC_000019.10:g.(?_ 12395059)_(1242244 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,395,059 | 12,422,445 |
| essv5011540 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5028499 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5040518 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5041324 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5050620 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5060327 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5065963 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5086424 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5105044 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5106152 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5123181 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5130916 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5151875 | Remapped | Perfect | NC_000019.9:g.(?_1 2505873)_(12533259 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 12,505,873 | 12,533,259 |
| essv5011540 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5028499 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5040518 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5041324 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5050620 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5060327 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5065963 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5086424 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5105044 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5106152 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5123181 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5130916 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 | ||
| essv5151875 | Submitted genomic | NC_000019.8:g.(?_1 2366873)_(12394259 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,366,873 | 12,394,259 |