esv3832410
- 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:36,362
- 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: 348 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3832410 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 145,501,960 (-26, +27) | 145,538,321 (-26, +27) |
| esv3832410 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 145,219,747 (-26, +27) | 145,256,108 (-26, +27) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv18522726 | deletion | HG00339 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,057 |
| essv18522727 | deletion | HG01432 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,051 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv18522726 | Remapped | Perfect | NC_000003.12:g.(14 5501934_145501987) _(145538295_145538 348)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 145,501,960 (-26, +27) | 145,538,321 (-26, +27) |
| essv18522727 | Remapped | Perfect | NC_000003.12:g.(14 5501934_145501987) _(145538295_145538 348)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 145,501,960 (-26, +27) | 145,538,321 (-26, +27) |
| essv18522726 | Submitted genomic | NC_000003.11:g.(14 5219721_145219774) _(145256082_145256 135)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 145,219,747 (-26, +27) | 145,256,108 (-26, +27) | ||
| essv18522727 | Submitted genomic | NC_000003.11:g.(14 5219721_145219774) _(145256082_145256 135)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 145,219,747 (-26, +27) | 145,256,108 (-26, +27) |