esv2666573
- 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:15,865
- 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: 342 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 342 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2666573 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 181,706,962 | 181,706,999 | 181,722,776 | 181,722,826 |
| esv2666573 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 182,628,115 | 182,628,152 | 182,643,929 | 182,643,979 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5413649 | deletion | SAMN00000437 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5413649 | Remapped | Perfect | NC_000004.12:g.(18 1706962_181706999) _(181722776_181722 826)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 181,706,962 | 181,706,999 | 181,722,776 | 181,722,826 |
| essv5413649 | Submitted genomic | NC_000004.11:g.(18 2628115_182628152) _(182643929_182643 979)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 182,628,115 | 182,628,152 | 182,643,929 | 182,643,979 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5413649 | 7 | SAMN00000437 | SNP array | Probe signal intensity | Pass |