esv2753543
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:267,504
- 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: 792 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 792 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2753543 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 77,082,131 | 77,349,634 |
| esv2753543 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 77,791,848 | 78,059,351 |
| esv2753543 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 77,848,567 | 78,116,070 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6982942 | copy number loss | BEC_528 | SNP array | SNP genotyping analysis | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6982942 | Remapped | Perfect | NC_000006.12:g.(?_ 77082131)_(7734963 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 77,082,131 | 77,349,634 |
| essv6982942 | Remapped | Perfect | NC_000006.11:g.(?_ 77791848)_(7805935 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 77,791,848 | 78,059,351 |
| essv6982942 | Submitted genomic | NC_000006.9:g.(?_7 7848567)_(78116070 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 77,848,567 | 78,116,070 |