esv2661239
- 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:14,344
- 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: 179 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 179 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2661239 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 76,122,143 | 76,122,300 | 76,136,333 | 76,136,486 |
esv2661239 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 76,171,294 | 76,171,451 | 76,185,484 | 76,185,637 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5740381 | deletion | SAMN00009107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,588 |
essv5773296 | deletion | SAMN00016967 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,067 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5740381 | Remapped | Perfect | NC_000003.12:g.(76 122143_76122300)_( 76136333_76136486) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 76,122,143 | 76,122,300 | 76,136,333 | 76,136,486 |
essv5773296 | Remapped | Perfect | NC_000003.12:g.(76 122143_76122300)_( 76136333_76136486) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 76,122,143 | 76,122,300 | 76,136,333 | 76,136,486 |
essv5740381 | Submitted genomic | NC_000003.11:g.(76 171294_76171451)_( 76185484_76185637) del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 76,171,294 | 76,171,451 | 76,185,484 | 76,185,637 | ||
essv5773296 | Submitted genomic | NC_000003.11:g.(76 171294_76171451)_( 76185484_76185637) del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 76,171,294 | 76,171,451 | 76,185,484 | 76,185,637 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5740381 | 7 | SAMN00009107 | SNP array | Probe signal intensity | Pass |
essv5773296 | 7 | SAMN00016967 | SNP array | Probe signal intensity | Pass |