esv3828869
- 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:107,963
- 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: 866 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 866 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3828869 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 434,402 | 542,364 |
| esv3828869 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 476,085 | 584,047 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv18159795 | copy number loss | HG00708 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,265 |
| essv18159796 | copy number loss | HG02238 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,561 |
| essv18159797 | copy number gain | HG00264 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,400 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv18159795 | Remapped | Perfect | NC_000003.12:g.434 402_542364del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 434,402 | 542,364 |
| essv18159796 | Remapped | Perfect | NC_000003.12:g.434 402_542364del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 434,402 | 542,364 |
| essv18159797 | Remapped | Perfect | NC_000003.12:g.434 402_542364dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 434,402 | 542,364 |
| essv18159795 | Submitted genomic | NC_000003.11:g.476 085_584047del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 476,085 | 584,047 | ||
| essv18159796 | Submitted genomic | NC_000003.11:g.476 085_584047del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 476,085 | 584,047 | ||
| essv18159797 | Submitted genomic | NC_000003.11:g.476 085_584047dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 476,085 | 584,047 |