esv2673833
- 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:130,935
- 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: 585 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 585 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2673833 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 121,667,803 | 121,667,837 | 121,798,702 | 121,798,737 |
| esv2673833 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 120,801,656 | 120,801,690 | 120,932,555 | 120,932,590 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6267071 | deletion | SAMN00006419 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,305 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6267071 | Remapped | Perfect | NC_000023.11:g.(12 1667803_121667837) _(121798702_121798 737)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 121,667,803 | 121,667,837 | 121,798,702 | 121,798,737 |
| essv6267071 | Submitted genomic | NC_000023.10:g.(12 0801656_120801690) _(120932555_120932 590)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 120,801,656 | 120,801,690 | 120,932,555 | 120,932,590 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6267071 | 7 | SAMN00006419 | SNP array | Probe signal intensity | Pass |