esv3567887
- Organism: Homo sapiens
- Study:estd211 (Campbell et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:184,404
- Publication(s):Campbell et al. 2014
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: 533 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 532 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3567887 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 57,380,772 | 57,565,175 |
| esv3567887 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 55,458,133 | 55,642,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| essv9766634 | deletion | Sequencing | Manual observation | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9766634 | Remapped | Perfect | NC_000017.11:g.573 80772_57565175del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 57,380,772 | 57,565,175 |
| essv9766634 | Submitted genomic | NC_000017.10:g.554 58133_55642536del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 55,458,133 | 55,642,536 |