esv2660109
- 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:13,019
- 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: 249 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2660109 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,992,285 | 78,992,322 | 79,005,253 | 79,005,303 |
| esv2660109 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 79,026,182 | 79,026,219 | 79,039,150 | 79,039,200 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6390523 | deletion | SAMN00001697 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6390523 | Remapped | Perfect | NC_000016.10:g.(78 992285_78992322)_( 79005253_79005303) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,992,285 | 78,992,322 | 79,005,253 | 79,005,303 |
| essv6390523 | Submitted genomic | NC_000016.9:g.(790 26182_79026219)_(7 9039150_79039200)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 79,026,182 | 79,026,219 | 79,039,150 | 79,039,200 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6390523 | 7 | SAMN00001697 | SNP array | Probe signal intensity | Pass |