esv2659766
- 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:1,619
- 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: 148 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2659766 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 135,563,275 | 135,563,312 | 135,564,843 | 135,564,893 |
| esv2659766 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 135,248,023 | 135,248,060 | 135,249,591 | 135,249,641 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5895450 | deletion | SAMN00001122 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,437 |
| essv6450944 | deletion | SAMN00007735 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5895450 | Remapped | Perfect | NC_000007.14:g.(13 5563275_135563312) _(135564843_135564 893)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 135,563,275 | 135,563,312 | 135,564,843 | 135,564,893 |
| essv6450944 | Remapped | Perfect | NC_000007.14:g.(13 5563275_135563312) _(135564843_135564 893)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 135,563,275 | 135,563,312 | 135,564,843 | 135,564,893 |
| essv5895450 | Submitted genomic | NC_000007.13:g.(13 5248023_135248060) _(135249591_135249 641)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 135,248,023 | 135,248,060 | 135,249,591 | 135,249,641 | ||
| essv6450944 | Submitted genomic | NC_000007.13:g.(13 5248023_135248060) _(135249591_135249 641)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 135,248,023 | 135,248,060 | 135,249,591 | 135,249,641 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5895450 | 7 | SAMN00001122 | SNP array | Probe signal intensity | Pass |
| essv6450944 | 7 | SAMN00007735 | SNP array | Probe signal intensity | Pass |