esv3825477
- 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:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:96,466
- 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: 457 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 457 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3825477 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 106,531,813 | 106,628,278 |
| esv3825477 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 107,148,269 | 107,244,734 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv17792662 | copy number loss | HG01775 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,518 |
| essv17792663 | copy number variation | HG01990 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 4,201 |
| essv17792664 | copy number gain | HG02501 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,451 |
| essv17792665 | copy number gain | HG03120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,174 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv17792662 | Remapped | Perfect | NC_000002.12:g.106 531813_106628278de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 106,531,813 | 106,628,278 |
| essv17792663 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 106,531,813 | 106,628,278 | |
| essv17792664 | Remapped | Perfect | NC_000002.12:g.106 531813_106628278du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 106,531,813 | 106,628,278 |
| essv17792665 | Remapped | Perfect | NC_000002.12:g.106 531813_106628278du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 106,531,813 | 106,628,278 |
| essv17792662 | Submitted genomic | NC_000002.11:g.107 148269_107244734de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 107,148,269 | 107,244,734 | ||
| essv17792663 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 107,148,269 | 107,244,734 | |||
| essv17792664 | Submitted genomic | NC_000002.11:g.107 148269_107244734du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 107,148,269 | 107,244,734 | ||
| essv17792665 | Submitted genomic | NC_000002.11:g.107 148269_107244734du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 107,148,269 | 107,244,734 |