esv2760341
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:189,663
- Publication(s):Vogler 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: 535 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 535 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2760341 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| esv2760341 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| esv2760341 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7022163 | copy number loss | RW_0002 | SNP array | SNP genotyping analysis | 76 |
| essv7022164 | copy number loss | RW_0124 | SNP array | SNP genotyping analysis | 36 |
| essv7022165 | copy number loss | RW_0129 | SNP array | SNP genotyping analysis | 68 |
| essv7022167 | copy number loss | RW_0218 | SNP array | SNP genotyping analysis | 60 |
| essv7022168 | copy number loss | RW_0234 | SNP array | SNP genotyping analysis | 62 |
| essv7022169 | copy number loss | RW_0271 | SNP array | SNP genotyping analysis | 63 |
| essv7022170 | copy number loss | RW_0275 | SNP array | SNP genotyping analysis | 61 |
| essv7022171 | copy number loss | RW_0320 | SNP array | SNP genotyping analysis | 26 |
| essv7022172 | copy number loss | RW_0331 | SNP array | SNP genotyping analysis | 47 |
| essv7022173 | copy number loss | RW_0608 | SNP array | SNP genotyping analysis | 51 |
| essv7022174 | copy number loss | RW_0612 | SNP array | SNP genotyping analysis | 40 |
| essv7022175 | copy number loss | RW_0614 | SNP array | SNP genotyping analysis | 64 |
| essv7022176 | copy number loss | RW_0635 | SNP array | SNP genotyping analysis | 46 |
| essv7022178 | copy number loss | RW_0100 | SNP array | SNP genotyping analysis | 45 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7022163 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022164 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022165 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022167 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022168 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022169 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022170 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022171 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022172 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022173 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022174 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022175 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022176 | Remapped | Perfect | NC_000014.9:g.(?_4 5356853)_(45546515 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,356,853 | 45,546,515 |
| essv7022178 | Remapped | Perfect | NC_000014.9:g.(?_4 5452599)_(45465700 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,452,599 | 45,465,700 |
| essv7022163 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022164 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022165 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022167 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022168 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022169 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022170 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022171 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022172 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022173 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022174 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022175 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022176 | Remapped | Perfect | NC_000014.8:g.(?_4 5826056)_(46015718 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,826,056 | 46,015,718 |
| essv7022178 | Remapped | Perfect | NC_000014.8:g.(?_4 5921802)_(45934903 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 45,921,802 | 45,934,903 |
| essv7022163 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022164 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022165 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022167 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022168 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022169 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022170 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022171 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022172 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022173 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022174 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022175 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022176 | Submitted genomic | NC_000014.7:g.(?_4 4895806)_(45085468 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,895,806 | 45,085,468 | ||
| essv7022178 | Submitted genomic | NC_000014.7:g.(?_4 4991552)_(45004653 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 44,991,552 | 45,004,653 |