esv3860960
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:355,343
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 2724 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2724 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3860960 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,401,619 (-1000, +500) | 66,756,961 (-500, +1000) |
| esv3860960 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,161,377 (-1000, +500) | 68,516,719 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv22025467 | deletion | HG00557 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,388 |
| essv22025468 | deletion | HG01865 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,541 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv22025467 | Remapped | Perfect | NC_000010.11:g.(66 400619_66402119)_( 66756461_66757961) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,401,619 (-1000, +500) | 66,756,961 (-500, +1000) |
| essv22025468 | Remapped | Perfect | NC_000010.11:g.(66 400619_66402119)_( 66756461_66757961) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,401,619 (-1000, +500) | 66,756,961 (-500, +1000) |
| essv22025467 | Submitted genomic | NC_000010.10:g.(68 160377_68161877)_( 68516219_68517719) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,161,377 (-1000, +500) | 68,516,719 (-500, +1000) | ||
| essv22025468 | Submitted genomic | NC_000010.10:g.(68 160377_68161877)_( 68516219_68517719) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,161,377 (-1000, +500) | 68,516,719 (-500, +1000) |