esv3612088
- 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:15,657
- 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: 206 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3612088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 7,525,537 (-1, +2) | 7,541,193 (-1, +2) |
| esv3612088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 7,565,168 (-1, +2) | 7,580,824 (-1, +2) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12674666 | deletion | SAMN00004635 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,821 |
| essv12674667 | deletion | SAMN00630195 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,101 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12674666 | Remapped | Perfect | NC_000007.14:g.(75 25536_7525539)_(75 41192_7541195)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 7,525,537 (-1, +2) | 7,541,193 (-1, +2) |
| essv12674667 | Remapped | Perfect | NC_000007.14:g.(75 25536_7525539)_(75 41192_7541195)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 7,525,537 (-1, +2) | 7,541,193 (-1, +2) |
| essv12674666 | Submitted genomic | NC_000007.13:g.(75 65167_7565170)_(75 80823_7580826)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,565,168 (-1, +2) | 7,580,824 (-1, +2) | ||
| essv12674667 | Submitted genomic | NC_000007.13:g.(75 65167_7565170)_(75 80823_7580826)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,565,168 (-1, +2) | 7,580,824 (-1, +2) |