esv2668999
- 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:16,676
- 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: 388 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2668999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 178,690,479 | 178,690,516 | 178,707,104 | 178,707,154 |
| esv2668999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 178,659,614 | 178,659,651 | 178,676,239 | 178,676,289 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6205368 | deletion | SAMN00001147 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6205368 | Remapped | Perfect | NC_000001.11:g.(17 8690479_178690516) _(178707104_178707 154)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,479 | 178,690,516 | 178,707,104 | 178,707,154 |
| essv6205368 | Submitted genomic | NC_000001.10:g.(17 8659614_178659651) _(178676239_178676 289)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,614 | 178,659,651 | 178,676,239 | 178,676,289 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6205368 | 7 | SAMN00001147 | SNP array | Probe signal intensity | Pass |