esv3614717
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,251
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 214 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3614717 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 117,608,683 (-45, +46) | 117,622,933 (-45, +46) |
| esv3614717 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 117,248,737 (-45, +46) | 117,262,987 (-45, +46) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12937373 | deletion | SAMN00249672 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,890 |
| essv12937374 | deletion | SAMN00779930 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,244 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12937373 | Remapped | Perfect | NC_000007.14:g.(11 7608638_117608729) _(117622888_117622 979)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,608,683 (-45, +46) | 117,622,933 (-45, +46) |
| essv12937374 | Remapped | Perfect | NC_000007.14:g.(11 7608638_117608729) _(117622888_117622 979)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,608,683 (-45, +46) | 117,622,933 (-45, +46) |
| essv12937373 | Submitted genomic | NC_000007.13:g.(11 7248692_117248783) _(117262942_117263 033)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,248,737 (-45, +46) | 117,262,987 (-45, +46) | ||
| essv12937374 | Submitted genomic | NC_000007.13:g.(11 7248692_117248783) _(117262942_117263 033)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,248,737 (-45, +46) | 117,262,987 (-45, +46) |