esv2663323
- 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:25,317
- 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: 163 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2663323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 111,793,931 | 111,793,965 | 111,819,212 | 111,819,247 |
| esv2663323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 113,553,689 | 113,553,723 | 113,578,970 | 113,579,005 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6300308 | deletion | SAMN00006541 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,690 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6300308 | Remapped | Perfect | NC_000010.11:g.(11 1793931_111793965) _(111819212_111819 247)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 111,793,931 | 111,793,965 | 111,819,212 | 111,819,247 |
| essv6300308 | Submitted genomic | NC_000010.10:g.(11 3553689_113553723) _(113578970_113579 005)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 113,553,689 | 113,553,723 | 113,578,970 | 113,579,005 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6300308 | 7 | SAMN00006541 | SNP array | Probe signal intensity | Pass |