esv3830508
- 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:94,490
- 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: 419 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 419 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3830508 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 61,812,502 | 61,906,991 |
| esv3830508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 61,798,176 | 61,892,665 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv18318933 | copy number loss | HG02277 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,278 |
| essv18318934 | copy number gain | HG02127 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,321 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv18318933 | Remapped | Perfect | NC_000003.12:g.618 12502_61906991del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 61,812,502 | 61,906,991 |
| essv18318934 | Remapped | Perfect | NC_000003.12:g.618 12502_61906991dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 61,812,502 | 61,906,991 |
| essv18318933 | Submitted genomic | NC_000003.11:g.617 98176_61892665del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 61,798,176 | 61,892,665 | ||
| essv18318934 | Submitted genomic | NC_000003.11:g.617 98176_61892665dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 61,798,176 | 61,892,665 |