esv2678476
- 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:228,912
- 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: 913 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 909 SVs from 92 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2678476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 67,739,401 | 67,968,312 |
| esv2678476 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 67,506,872 | 67,735,783 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5404409 | deletion | SAMN00006362 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv6110888 | deletion | SAMN00004639 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5404409 | Remapped | Perfect | NC_000011.10:g.677 39401_67968312delG | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,739,401 | 67,968,312 |
| essv6110888 | Remapped | Perfect | NC_000011.10:g.677 39401_67968312delG | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,739,401 | 67,968,312 |
| essv5404409 | Submitted genomic | NC_000011.9:g.6750 6872_67735783delG | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,506,872 | 67,735,783 | ||
| essv6110888 | Submitted genomic | NC_000011.9:g.6750 6872_67735783delG | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,506,872 | 67,735,783 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6110888 | 7 | SAMN00004639 | SNP array | Probe signal intensity | Pass |
| essv5404409 | 7 | SAMN00006362 | SNP array | Probe signal intensity | Pass |