esv3574153
- 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:162,239
- 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: 977 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 977 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3574153 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 64,450,218 | 64,612,456 |
| esv3574153 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 62,117,453 | 62,279,691 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv9816068 | copy number gain | SNP array | Probe signal intensity | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9816068 | Remapped | Perfect | NC_000018.10:g.(?_ 64450218)_(6461245 6_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 64,450,218 | 64,612,456 |
| essv9816068 | Submitted genomic | NC_000018.9:g.(?_6 2117453)_(62279691 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 62,117,453 | 62,279,691 |