esv3569812
- 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:198,779
- 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: 1015 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1015 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3569812 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 167,874,151 | 168,072,929 |
| esv3569812 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 168,795,302 | 168,994,080 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9772959 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9772959 | Remapped | Perfect | NC_000004.12:g.(?_ 167874151)_(168072 929_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,874,151 | 168,072,929 |
| essv9772959 | Submitted genomic | NC_000004.11:g.(?_ 168795302)_(168994 080_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 168,795,302 | 168,994,080 |