esv2666380
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,260
- 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: 181 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 181 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2666380 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 116,380,078 | 116,391,337 |
| esv2666380 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 116,098,925 | 116,110,184 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5879186 | deletion | SAMN00001584 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
| essv5916246 | deletion | SAMN00000475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5879186 | Remapped | Perfect | NC_000003.12:g.116 380078_116391337de lT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 116,380,078 | 116,391,337 |
| essv5916246 | Remapped | Perfect | NC_000003.12:g.116 380078_116391337de lT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 116,380,078 | 116,391,337 |
| essv5879186 | Submitted genomic | NC_000003.11:g.116 098925_116110184de lT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 116,098,925 | 116,110,184 | ||
| essv5916246 | Submitted genomic | NC_000003.11:g.116 098925_116110184de lT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 116,098,925 | 116,110,184 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5916246 | 7 | SAMN00000475 | SNP array | Probe signal intensity | Pass |
| essv5879186 | 7 | SAMN00001584 | SNP array | Probe signal intensity | Pass |