esv2671791
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,622
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 189 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2671791 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 112,003,680 | 112,003,717 | 112,013,251 | 112,013,301 |
| esv2671791 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 111,339,377 | 111,339,414 | 111,348,948 | 111,348,998 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6564153 | deletion | SAMN00001155 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,570 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6564153 | Remapped | Perfect | NC_000005.10:g.(11 2003680_112003717) _(112013251_112013 301)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 112,003,680 | 112,003,717 | 112,013,251 | 112,013,301 |
| essv6564153 | Submitted genomic | NC_000005.9:g.(111 339377_111339414)_ (111348948_1113489 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 111,339,377 | 111,339,414 | 111,348,948 | 111,348,998 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6564153 | 7 | SAMN00001155 | SNP array | Probe signal intensity | Pass |