esv34879
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:281,056
- Description:Sample level SV from stringent call set
- Publication(s):Pinto et al. 2007
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: 1158 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1164 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 30,117,314 | 30,398,369 |
| esv34879 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 30,117,312 | 30,398,367 |
| esv34879 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000009.9 | Chr9 | 30,107,312 | 30,388,367 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6988338 | copy number gain | NA19154 | SNP array | SNP genotyping analysis | 25 |
| essv6980967 | copy number gain | NA19154 | SNP array | SNP genotyping analysis | 25 |
| essv6980968 | copy number gain | NA19154 | SNP array | SNP genotyping analysis | 25 |
| essv6985450 | copy number gain | NA19154 | SNP array | SNP genotyping analysis | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6988338 | Remapped | Perfect | NC_000009.12:g.(?_ 30117314)_(3039836 9_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,117,314 | 30,398,369 |
| essv6980967 | Remapped | Perfect | NC_000009.12:g.(?_ 30252860)_(3037598 8_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,252,860 | 30,375,988 |
| essv6980968 | Remapped | Perfect | NC_000009.12:g.(?_ 30255387)_(3038415 3_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,255,387 | 30,384,153 |
| essv6985450 | Remapped | Perfect | NC_000009.12:g.(?_ 30255402)_(3038420 2_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,255,402 | 30,384,202 |
| essv6988338 | Remapped | Perfect | NC_000009.11:g.(?_ 30117312)_(3039836 7_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 30,117,312 | 30,398,367 |
| essv6980967 | Remapped | Perfect | NC_000009.11:g.(?_ 30252858)_(3037598 6_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 30,252,858 | 30,375,986 |
| essv6980968 | Remapped | Perfect | NC_000009.11:g.(?_ 30255385)_(3038415 1_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 30,255,385 | 30,384,151 |
| essv6985450 | Remapped | Perfect | NC_000009.11:g.(?_ 30255400)_(3038420 0_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 30,255,400 | 30,384,200 |
| essv6988338 | Submitted genomic | NC_000009.9:g.(?_3 0107312)_(30388367 _?)dup | NCBI35 (hg17) | NC_000009.9 | Chr9 | 30,107,312 | 30,388,367 | ||
| essv6980967 | Submitted genomic | NC_000009.9:g.(?_3 0242858)_(30365986 _?)dup | NCBI35 (hg17) | NC_000009.9 | Chr9 | 30,242,858 | 30,365,986 | ||
| essv6980968 | Submitted genomic | NC_000009.9:g.(?_3 0245385)_(30374151 _?)dup | NCBI35 (hg17) | NC_000009.9 | Chr9 | 30,245,385 | 30,374,151 | ||
| essv6985450 | Submitted genomic | NC_000009.9:g.(?_3 0245400)_(30374200 _?)dup | NCBI35 (hg17) | NC_000009.9 | Chr9 | 30,245,400 | 30,374,200 |