esv2761654
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:58,822
- 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: 731 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 887 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 428 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2761654 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 147,278,597 | 147,337,418 |
| esv2761654 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 146,750,270 | 146,809,156 |
| esv2761654 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,094,010 | 4,152,831 |
| esv2761654 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 145,216,894 | 145,275,780 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6995756 | copy number loss | SW_1342 | SNP array | SNP genotyping analysis | 28 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6995756 | Remapped | Good | NC_000001.11:g.(?_ 147278597)_(147337 418_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 147,278,597 | 147,337,418 |
| essv6995756 | Remapped | Good | NW_003871055.3:g.( ?_4094010)_(415283 1_?)del | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,094,010 | 4,152,831 |
| essv6995756 | Remapped | Perfect | NC_000001.10:g.(?_ 146750270)_(146809 156_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 146,750,270 | 146,809,156 |
| essv6995756 | Submitted genomic | NC_000001.9:g.(?_1 45216894)_(1452757 80_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 145,216,894 | 145,275,780 |