esv2669929
- 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:44,567
- 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: 321 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2669929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 7,047,097 | 7,091,663 |
| esv2669929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 6,950,416 | 6,994,982 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6175424 | deletion | SAMN00001034 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,111 |
| essv6410038 | deletion | SAMN00000476 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6175424 | Remapped | Perfect | NC_000017.11:g.704 7097_7091663delG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,047,097 | 7,091,663 |
| essv6410038 | Remapped | Perfect | NC_000017.11:g.704 7097_7091663delG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,047,097 | 7,091,663 |
| essv6175424 | Submitted genomic | NC_000017.10:g.695 0416_6994982delG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,950,416 | 6,994,982 | ||
| essv6410038 | Submitted genomic | NC_000017.10:g.695 0416_6994982delG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,950,416 | 6,994,982 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6410038 | 7 | SAMN00000476 | SNP array | Probe signal intensity | Pass |
| essv6175424 | 7 | SAMN00001034 | SNP array | Probe signal intensity | Pass |