esv3841374
- 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:246,201
- 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: 938 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 938 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3841374 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 101,903,255 (-37, +38) | 102,149,455 (-37, +38) |
| esv3841374 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 101,238,959 (-37, +38) | 101,485,159 (-37, +38) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv19666250 | deletion | HG00631 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,601 |
| essv19666251 | deletion | HG02219 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,963 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv19666250 | Remapped | Perfect | NC_000005.10:g.(10 1903218_101903293) _(102149418_102149 493)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,903,255 (-37, +38) | 102,149,455 (-37, +38) |
| essv19666251 | Remapped | Perfect | NC_000005.10:g.(10 1903218_101903293) _(102149418_102149 493)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,903,255 (-37, +38) | 102,149,455 (-37, +38) |
| essv19666250 | Submitted genomic | NC_000005.9:g.(101 238922_101238997)_ (101485122_1014851 97)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 101,238,959 (-37, +38) | 101,485,159 (-37, +38) | ||
| essv19666251 | Submitted genomic | NC_000005.9:g.(101 238922_101238997)_ (101485122_1014851 97)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 101,238,959 (-37, +38) | 101,485,159 (-37, +38) |