esv3567866
- 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:250,577
- 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: 731 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 731 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3567866 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 23,427,409 | 23,677,985 |
| esv3567866 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 23,580,343 | 23,830,919 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| essv9766613 | deletion | Sequencing | Manual observation | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9766613 | Remapped | Perfect | NC_000012.12:g.234 27409_23677985del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 23,427,409 | 23,677,985 |
| essv9766613 | Submitted genomic | NC_000012.11:g.235 80343_23830919del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 23,580,343 | 23,830,919 |