esv2668605
- 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:13,999
- 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: 253 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2668605 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 54,600,885 | 54,601,042 | 54,614,730 | 54,614,883 |
| esv2668605 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 54,893,083 | 54,893,240 | 54,906,928 | 54,907,081 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6158934 | deletion | SAMN00006552 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6158934 | Remapped | Perfect | NC_000015.10:g.(54 600885_54601042)_( 54614730_54614883) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 54,600,885 | 54,601,042 | 54,614,730 | 54,614,883 |
| essv6158934 | Submitted genomic | NC_000015.9:g.(548 93083_54893240)_(5 4906928_54907081)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 54,893,083 | 54,893,240 | 54,906,928 | 54,907,081 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6158934 | 9 | SAMN00006552 | Oligo aCGH | Probe signal intensity | Pass |
| essv6158934 | 7 | SAMN00006552 | SNP array | Probe signal intensity | Pass |