esv4010921
- 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:29,001
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: 290 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 290 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv4010921 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,590,721 | 127,619,721 |
esv4010921 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,353,000 | 130,382,000 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv26066928 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv26066928 | Remapped | Perfect | NC_000009.12:g.127 590721_127619721de l29000 | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,590,721 | 127,619,721 |
essv26066928 | Submitted genomic | NC_000009.11:g.130 353000_130382000de l29000 | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,353,000 | 130,382,000 |