esv2756414
- 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:260,312
- 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: 1378 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1378 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2756414 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 63,169,125 | 63,429,436 |
| esv2756414 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 64,034,843 | 64,295,154 |
| esv2756414 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 63,863,609 | 64,123,920 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6989335 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6989335 | Remapped | Perfect | NC_000004.12:g.(?_ 63169125)_(6342943 6_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 63,169,125 | 63,429,436 |
| essv6989335 | Remapped | Perfect | NC_000004.11:g.(?_ 64034843)_(6429515 4_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 64,034,843 | 64,295,154 |
| essv6989335 | Submitted genomic | NC_000004.9:g.(?_6 3863609)_(64123920 _?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 63,863,609 | 64,123,920 |