esv2661110
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,662
- 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: 219 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2661110 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| esv2661110 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5471193 | deletion | SAMN00006546 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
| essv5490700 | deletion | SAMN00006520 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,720 |
| essv5591795 | deletion | SAMN00006544 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,696 |
| essv5657384 | deletion | SAMN00000420 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,470 |
| essv5728058 | deletion | SAMN00001607 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,399 |
| essv5772104 | deletion | SAMN00001634 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,135 |
| essv5808849 | deletion | SAMN00000922 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
| essv5904784 | deletion | SAMN00006492 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,011 |
| essv6232512 | deletion | SAMN00000377 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 987 |
| essv6473617 | deletion | SAMN00006552 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
| essv6489622 | deletion | SAMN00006469 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,602 |
| essv6505881 | deletion | SAMN00000530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,423 |
| essv6559456 | deletion | SAMN00006532 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,169 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5471193 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv5490700 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv5591795 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv5657384 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv5728058 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv5772104 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv5808849 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv5904784 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv6232512 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv6473617 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv6489622 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv6505881 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv6559456 | Remapped | Perfect | NC_000001.11:g.231 399630_231410291de lA | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,630 | 231,410,291 |
| essv5471193 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv5490700 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv5591795 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv5657384 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv5728058 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv5772104 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv5808849 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv5904784 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv6232512 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv6473617 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv6489622 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv6505881 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 | ||
| essv6559456 | Submitted genomic | NC_000001.10:g.231 535376_231546037de lA | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,376 | 231,546,037 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6232512 | 9 | SAMN00000377 | Oligo aCGH | Probe signal intensity | Pass |
| essv5657384 | 9 | SAMN00000420 | Oligo aCGH | Probe signal intensity | Pass |
| essv6505881 | 9 | SAMN00000530 | Oligo aCGH | Probe signal intensity | Pass |
| essv5808849 | 9 | SAMN00000922 | Oligo aCGH | Probe signal intensity | Pass |
| essv5728058 | 9 | SAMN00001607 | Oligo aCGH | Probe signal intensity | Pass |
| essv5772104 | 9 | SAMN00001634 | Oligo aCGH | Probe signal intensity | Pass |
| essv6489622 | 9 | SAMN00006469 | Oligo aCGH | Probe signal intensity | Pass |
| essv5904784 | 9 | SAMN00006492 | Oligo aCGH | Probe signal intensity | Pass |
| essv5490700 | 9 | SAMN00006520 | Oligo aCGH | Probe signal intensity | Pass |
| essv6559456 | 9 | SAMN00006532 | Oligo aCGH | Probe signal intensity | Pass |
| essv5591795 | 9 | SAMN00006544 | Oligo aCGH | Probe signal intensity | Pass |
| essv5471193 | 9 | SAMN00006546 | Oligo aCGH | Probe signal intensity | Pass |
| essv6473617 | 9 | SAMN00006552 | Oligo aCGH | Probe signal intensity | Pass |
| essv6232512 | 7 | SAMN00000377 | SNP array | Probe signal intensity | Pass |
| essv5657384 | 7 | SAMN00000420 | SNP array | Probe signal intensity | Pass |
| essv6505881 | 7 | SAMN00000530 | SNP array | Probe signal intensity | Pass |
| essv5808849 | 7 | SAMN00000922 | SNP array | Probe signal intensity | Pass |
| essv5728058 | 7 | SAMN00001607 | SNP array | Probe signal intensity | Pass |
| essv5772104 | 7 | SAMN00001634 | SNP array | Probe signal intensity | Pass |
| essv6489622 | 7 | SAMN00006469 | SNP array | Probe signal intensity | Pass |
| essv5904784 | 7 | SAMN00006492 | SNP array | Probe signal intensity | Pass |
| essv5490700 | 7 | SAMN00006520 | SNP array | Probe signal intensity | Pass |
| essv6559456 | 7 | SAMN00006532 | SNP array | Probe signal intensity | Pass |
| essv5591795 | 7 | SAMN00006544 | SNP array | Probe signal intensity | Pass |
| essv5471193 | 7 | SAMN00006546 | SNP array | Probe signal intensity | Pass |
| essv6473617 | 7 | SAMN00006552 | SNP array | Probe signal intensity | Pass |