esv4010913
- 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:6,001
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: 212 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 45 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv4010913 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 67,243,765 | 67,249,765 |
esv4010913 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 68,156,000 | 68,162,000 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv26066920 | copy number loss | hepG2 | Sequencing | Read depth and paired-end mapping | 0 | 1,026 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv26066920 | Remapped | Perfect | NC_000008.11:g.672 43765_67249765del6 000 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 67,243,765 | 67,249,765 |
essv26066920 | Submitted genomic | NC_000008.10:g.681 56000_68162000del6 000 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 68,156,000 | 68,162,000 |