esv3628119
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,704
- 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: 300 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 300 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3628119 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 132,164,562 (-32, +0) | 132,167,265 (-0, +47) |
| esv3628119 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 132,034,456 (-32, +0) | 132,037,159 (-0, +47) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14317584 | deletion | SAMN00001554 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,747 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14317584 | Remapped | Perfect | NC_000011.10:g.(13 2164530_132164562) _(132167265_132167 312)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 132,164,562 (-32, +0) | 132,167,265 (-0, +47) |
| essv14317584 | Submitted genomic | NC_000011.9:g.(132 034424_132034456)_ (132037159_1320372 06)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 132,034,456 (-32, +0) | 132,037,159 (-0, +47) |