esv3848154
- 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:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:64,171
- 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: 405 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 405 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3848154 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 7,280,453 | 7,344,623 |
| esv3848154 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 7,320,084 | 7,384,254 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv20526500 | copy number loss | HG02255 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,880 |
| essv20526501 | copy number loss | HG02973 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,061 |
| essv20526502 | copy number loss | HG03401 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,792 |
| essv20526503 | copy number loss | NA19099 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,102 |
| essv20526504 | copy number gain | HG01773 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,237 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv20526500 | Remapped | Perfect | NC_000007.14:g.728 0453_7344623del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 7,280,453 | 7,344,623 |
| essv20526501 | Remapped | Perfect | NC_000007.14:g.728 0453_7344623del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 7,280,453 | 7,344,623 |
| essv20526502 | Remapped | Perfect | NC_000007.14:g.728 0453_7344623del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 7,280,453 | 7,344,623 |
| essv20526503 | Remapped | Perfect | NC_000007.14:g.728 0453_7344623del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 7,280,453 | 7,344,623 |
| essv20526504 | Remapped | Perfect | NC_000007.14:g.728 0453_7344623dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 7,280,453 | 7,344,623 |
| essv20526500 | Submitted genomic | NC_000007.13:g.732 0084_7384254del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,320,084 | 7,384,254 | ||
| essv20526501 | Submitted genomic | NC_000007.13:g.732 0084_7384254del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,320,084 | 7,384,254 | ||
| essv20526502 | Submitted genomic | NC_000007.13:g.732 0084_7384254del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,320,084 | 7,384,254 | ||
| essv20526503 | Submitted genomic | NC_000007.13:g.732 0084_7384254del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,320,084 | 7,384,254 | ||
| essv20526504 | Submitted genomic | NC_000007.13:g.732 0084_7384254dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,320,084 | 7,384,254 |