esv3878062
- 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:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:118,665
- 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: 529 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3878062 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 76,697,900 (-2, +3) | 76,816,564 (-2, +3) |
| esv3878062 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 76,731,797 (-2, +3) | 76,850,461 (-2, +3) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24062960 | deletion | HG01606 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,468 |
| essv24062961 | deletion | HG01678 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,558 |
| essv24062962 | deletion | HG03054 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,343 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24062960 | Remapped | Perfect | NC_000016.10:g.(76 697898_76697903)_( 76816562_76816567) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,697,900 (-2, +3) | 76,816,564 (-2, +3) |
| essv24062961 | Remapped | Perfect | NC_000016.10:g.(76 697898_76697903)_( 76816562_76816567) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,697,900 (-2, +3) | 76,816,564 (-2, +3) |
| essv24062962 | Remapped | Perfect | NC_000016.10:g.(76 697898_76697903)_( 76816562_76816567) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,697,900 (-2, +3) | 76,816,564 (-2, +3) |
| essv24062960 | Submitted genomic | NC_000016.9:g.(767 31795_76731800)_(7 6850459_76850464)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 76,731,797 (-2, +3) | 76,850,461 (-2, +3) | ||
| essv24062961 | Submitted genomic | NC_000016.9:g.(767 31795_76731800)_(7 6850459_76850464)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 76,731,797 (-2, +3) | 76,850,461 (-2, +3) | ||
| essv24062962 | Submitted genomic | NC_000016.9:g.(767 31795_76731800)_(7 6850459_76850464)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 76,731,797 (-2, +3) | 76,850,461 (-2, +3) |