esv3446694
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,679
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 94 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3446694 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 117,524,622 (-710, +690) | 117,528,300 (-690, +1010) |
| esv3446694 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 117,164,676 (-710, +690) | 117,168,354 (-690, +1010) |
| esv3446694 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 116,951,912 (-710, +690) | 116,955,590 (-690, +1010) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8803259 | deletion | SAMN00001694 | Sequencing | Read depth | 29,487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8803259 | Remapped | Perfect | NC_000007.14:g.(11 7523912_117525312) _(117527610_117529 310)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,524,622 (-710, +690) | 117,528,300 (-690, +1010) |
| essv8803259 | Remapped | Perfect | NC_000007.13:g.(11 7163966_117165366) _(117167664_117169 364)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 117,164,676 (-710, +690) | 117,168,354 (-690, +1010) |
| essv8803259 | Submitted genomic | NC_000007.12:g.(11 6951202_116952602) _(116954900_116956 600)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 116,951,912 (-710, +690) | 116,955,590 (-690, +1010) |