esv2664790
- 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:19,229
- 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: 268 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 51 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2664790 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 82,182,062 | 82,182,130 | 82,201,205 | 82,201,290 |
esv2664790 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 83,941,818 | 83,941,886 | 83,960,961 | 83,961,046 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5786849 | deletion | SAMN00009107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,588 |
essv6291081 | deletion | SAMN00004644 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 930 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5786849 | Remapped | Perfect | NC_000010.11:g.(82 182062_82182130)_( 82201205_82201290) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 82,182,062 | 82,182,130 | 82,201,205 | 82,201,290 |
essv6291081 | Remapped | Perfect | NC_000010.11:g.(82 182062_82182130)_( 82201205_82201290) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 82,182,062 | 82,182,130 | 82,201,205 | 82,201,290 |
essv5786849 | Submitted genomic | NC_000010.10:g.(83 941818_83941886)_( 83960961_83961046) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 83,941,818 | 83,941,886 | 83,960,961 | 83,961,046 | ||
essv6291081 | Submitted genomic | NC_000010.10:g.(83 941818_83941886)_( 83960961_83961046) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 83,941,818 | 83,941,886 | 83,960,961 | 83,961,046 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6291081 | 7 | SAMN00004644 | SNP array | Probe signal intensity | Pass |
essv5786849 | 7 | SAMN00009107 | SNP array | Probe signal intensity | Pass |