esv2992511
- Organism: Homo sapiens
- Study:estd209 (Pang et al. 2014b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Pang 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: 130 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2992511 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 45,338,754 | 45,338,755 |
| esv2992511 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 45,804,426 | 45,804,427 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv7262078 | deletion | HuRef | Sequencing | Split read mapping | Homozygous | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7262078 | Remapped | Perfect | NC_000001.11:g.453 38754_45338755del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 45,338,754 | 45,338,755 |
| essv7262078 | Submitted genomic | NC_000001.10:g.458 04426_45804427del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 45,804,426 | 45,804,427 |