esv2755400
- 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:535,739
- 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: 1470 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1470 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2755400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 133,489,640 | 134,025,378 |
| esv2755400 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 134,410,795 | 134,946,533 |
| esv2755400 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 134,768,400 | 135,304,138 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6989748 | copy number loss | BEC_549 | SNP array | SNP genotyping analysis | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6989748 | Remapped | Perfect | NC_000004.12:g.(?_ 133489640)_(134025 378_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 133,489,640 | 134,025,378 |
| essv6989748 | Remapped | Perfect | NC_000004.11:g.(?_ 134410795)_(134946 533_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 134,410,795 | 134,946,533 |
| essv6989748 | Submitted genomic | NC_000004.9:g.(?_1 34768400)_(1353041 38_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 134,768,400 | 135,304,138 |