esv2674524
- 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:170,190
- 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: 1329 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1329 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2674524 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,679,966 | 136,680,000 | 136,850,120 | 136,850,155 |
| esv2674524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,692,209 | 137,692,243 | 137,862,363 | 137,862,398 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5897531 | deletion | SAMN00006599 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,583 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5897531 | Remapped | Perfect | NC_000008.11:g.(13 6679966_136680000) _(136850120_136850 155)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,679,966 | 136,680,000 | 136,850,120 | 136,850,155 |
| essv5897531 | Submitted genomic | NC_000008.10:g.(13 7692209_137692243) _(137862363_137862 398)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,692,209 | 137,692,243 | 137,862,363 | 137,862,398 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5897531 | 7 | SAMN00006599 | SNP array | Probe signal intensity | Pass |