esv3569689
- Organism: Homo sapiens
- Study:estd212 (Uddin et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:225,403
- 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: 692 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 692 SVs from 58 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 |
---|---|---|---|---|---|---|---|---|---|
esv3569689 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 126,306,674 | 126,532,076 |
esv3569689 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 127,227,829 | 127,453,231 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
essv9772594 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv9772594 | Remapped | Perfect | NC_000004.12:g.(?_ 126306674)_(126532 076_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 126,306,674 | 126,532,076 |
essv9772594 | Submitted genomic | NC_000004.11:g.(?_ 127227829)_(127453 231_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 127,227,829 | 127,453,231 |