esv2657105
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:341,913
- 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: 744 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 744 SVs from 59 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2657105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 153,385,677 | 153,385,711 | 153,727,554 | 153,727,589 |
esv2657105 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 152,765,237 | 152,765,271 | 153,107,114 | 153,107,149 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5812527 | deletion | SAMN00006474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,703 |
essv6066936 | deletion | SAMN00006523 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,722 |
essv6346483 | deletion | SAMN00006565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,730 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5812527 | Remapped | Perfect | NC_000005.10:g.(15 3385677_153385711) _(153727554_153727 589)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 153,385,677 | 153,385,711 | 153,727,554 | 153,727,589 |
essv6066936 | Remapped | Perfect | NC_000005.10:g.(15 3385677_153385711) _(153727554_153727 589)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 153,385,677 | 153,385,711 | 153,727,554 | 153,727,589 |
essv6346483 | Remapped | Perfect | NC_000005.10:g.(15 3385677_153385711) _(153727554_153727 589)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 153,385,677 | 153,385,711 | 153,727,554 | 153,727,589 |
essv5812527 | Submitted genomic | NC_000005.9:g.(152 765237_152765271)_ (153107114_1531071 49)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 152,765,237 | 152,765,271 | 153,107,114 | 153,107,149 | ||
essv6066936 | Submitted genomic | NC_000005.9:g.(152 765237_152765271)_ (153107114_1531071 49)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 152,765,237 | 152,765,271 | 153,107,114 | 153,107,149 | ||
essv6346483 | Submitted genomic | NC_000005.9:g.(152 765237_152765271)_ (153107114_1531071 49)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 152,765,237 | 152,765,271 | 153,107,114 | 153,107,149 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5812527 | 7 | SAMN00006474 | SNP array | Probe signal intensity | Pass |
essv6066936 | 7 | SAMN00006523 | SNP array | Probe signal intensity | Pass |
essv6346483 | 7 | SAMN00006565 | SNP array | Probe signal intensity | Pass |