esv4010922
- Organism: Homo sapiens
- Study:estd233 (Luo et al. 2017b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,001
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: 160 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv4010922 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,619,721 | 127,623,721 |
esv4010922 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,382,000 | 130,386,000 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv26066929 | copy number loss | hepG2 | Sequencing | Read depth and paired-end mapping | 1 | 1,026 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv26066929 | Remapped | Perfect | NC_000009.12:g.127 619721_127623721de l4000 | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,619,721 | 127,623,721 |
essv26066929 | Submitted genomic | NC_000009.11:g.130 382000_130386000de l4000 | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,382,000 | 130,386,000 |