esv4010562
- 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:148,001
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: 495 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 495 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4010562 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 18,659,734 | 18,807,734 |
| esv4010562 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 18,841,000 | 18,989,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26066569 | copy number gain | hepG2 | Sequencing | Read depth and paired-end mapping | 3 | 1,026 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26066569 | Remapped | Perfect | NC_000002.12:g.186 59734_18807734dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 18,659,734 | 18,807,734 |
| essv26066569 | Submitted genomic | NC_000002.11:g.188 41000_18989000dup1 48000 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 18,841,000 | 18,989,000 |