esv2665103
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,081
- 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: 270 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 48 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2665103 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 8,163,450 | 8,163,607 | 8,172,377 | 8,172,530 |
esv2665103 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 8,165,177 | 8,165,334 | 8,174,104 | 8,174,257 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5611848 | deletion | SAMN00000446 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,545 |
essv5827180 | deletion | SAMN00006453 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,472 |
essv5998582 | deletion | SAMN00006477 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,675 |
essv6065022 | deletion | SAMN00001595 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,210 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5611848 | Remapped | Perfect | NC_000004.12:g.(81 63450_8163607)_(81 72377_8172530)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 8,163,450 | 8,163,607 | 8,172,377 | 8,172,530 |
essv5827180 | Remapped | Perfect | NC_000004.12:g.(81 63450_8163607)_(81 72377_8172530)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 8,163,450 | 8,163,607 | 8,172,377 | 8,172,530 |
essv5998582 | Remapped | Perfect | NC_000004.12:g.(81 63450_8163607)_(81 72377_8172530)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 8,163,450 | 8,163,607 | 8,172,377 | 8,172,530 |
essv6065022 | Remapped | Perfect | NC_000004.12:g.(81 63450_8163607)_(81 72377_8172530)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 8,163,450 | 8,163,607 | 8,172,377 | 8,172,530 |
essv5611848 | Submitted genomic | NC_000004.11:g.(81 65177_8165334)_(81 74104_8174257)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 8,165,177 | 8,165,334 | 8,174,104 | 8,174,257 | ||
essv5827180 | Submitted genomic | NC_000004.11:g.(81 65177_8165334)_(81 74104_8174257)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 8,165,177 | 8,165,334 | 8,174,104 | 8,174,257 | ||
essv5998582 | Submitted genomic | NC_000004.11:g.(81 65177_8165334)_(81 74104_8174257)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 8,165,177 | 8,165,334 | 8,174,104 | 8,174,257 | ||
essv6065022 | Submitted genomic | NC_000004.11:g.(81 65177_8165334)_(81 74104_8174257)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 8,165,177 | 8,165,334 | 8,174,104 | 8,174,257 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5611848 | 7 | SAMN00000446 | SNP array | Probe signal intensity | Pass |
essv6065022 | 7 | SAMN00001595 | SNP array | Probe signal intensity | Pass |
essv5827180 | 7 | SAMN00006453 | SNP array | Probe signal intensity | Pass |
essv5998582 | 7 | SAMN00006477 | SNP array | Probe signal intensity | Pass |