esv2671253
- 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:85,060
- 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: 2765 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2765 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2671253 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,911,996 | 29,912,030 | 29,997,020 | 29,997,055 |
| esv2671253 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,879,773 | 29,879,807 | 29,964,797 | 29,964,832 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5730981 | deletion | SAMN00004645 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 771 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5730981 | Remapped | Perfect | NC_000006.12:g.(29 911996_29912030)_( 29997020_29997055) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,911,996 | 29,912,030 | 29,997,020 | 29,997,055 |
| essv5730981 | Submitted genomic | NC_000006.11:g.(29 879773_29879807)_( 29964797_29964832) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,879,773 | 29,879,807 | 29,964,797 | 29,964,832 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5730981 | 7 | SAMN00004645 | SNP array | Probe signal intensity | Pass |