esv4010867
- 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:280,071
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: 61 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2760 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4010867 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 330,828 | 610,898 |
| esv4010867 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 61,528,000 | 61,915,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26066874 | copy number gain | hepG2 | Sequencing | Read depth and paired-end mapping | 7 | 1,026 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26066874 | Remapped | Pass | NT_187383.1:g.3308 28_610898dup | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 330,828 | 610,898 |
| essv26066874 | Submitted genomic | NC_000007.13:g.615 28000_61915000dup3 87000 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,528,000 | 61,915,000 |