esv3569696
- Organism: Homo sapiens
- Study:estd212 (Uddin et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:272,227
- Publication(s):Uddin et al. 2014
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: 940 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 940 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3569696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 133,997,798 | 134,270,024 |
| esv3569696 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 134,918,953 | 135,191,179 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9772615 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv9772616 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9772615 | Remapped | Perfect | NC_000004.12:g.(?_ 133997798)_(134270 024_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 133,997,798 | 134,270,024 |
| essv9772616 | Remapped | Perfect | NC_000004.12:g.(?_ 133997798)_(134270 024_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 133,997,798 | 134,270,024 |
| essv9772615 | Submitted genomic | NC_000004.11:g.(?_ 134918953)_(135191 179_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 134,918,953 | 135,191,179 | ||
| essv9772616 | Submitted genomic | NC_000004.11:g.(?_ 134918953)_(135191 179_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 134,918,953 | 135,191,179 |