esv3872826
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:24
- Validation:Not tested
- Clinical Assertions: No
- Region Size:28,221
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 217 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 217 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3872826 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| esv3872826 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23465724 | deletion | HG01924 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,474 |
| essv23465725 | deletion | HG02281 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,314 |
| essv23465726 | deletion | HG02308 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,862 |
| essv23465727 | deletion | HG02489 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,310 |
| essv23465728 | deletion | HG02583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,904 |
| essv23465729 | deletion | HG02923 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,132 |
| essv23465730 | deletion | HG03025 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,706 |
| essv23465731 | deletion | HG03096 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,144 |
| essv23465732 | deletion | HG03212 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,788 |
| essv23465733 | deletion | HG03304 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,065 |
| essv23465734 | deletion | HG03351 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,155 |
| essv23465735 | deletion | HG03461 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,961 |
| essv23465736 | deletion | NA18871 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,552 |
| essv23465737 | deletion | NA18878 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,104 |
| essv23465738 | deletion | NA18907 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,088 |
| essv23465739 | deletion | NA18910 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,161 |
| essv23465740 | deletion | NA18933 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,187 |
| essv23465741 | deletion | NA19149 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,562 |
| essv23465742 | deletion | NA19185 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,486 |
| essv23465743 | deletion | NA19200 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,557 |
| essv23465744 | deletion | NA19209 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,130 |
| essv23465745 | deletion | NA19351 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,893 |
| essv23465746 | deletion | NA19473 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,705 |
| essv23465747 | deletion | NA19701 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,831 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23465724 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465725 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465726 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465727 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465728 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465729 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465730 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465731 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465732 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465733 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465734 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465735 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465736 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465737 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465738 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465739 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465740 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465741 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465742 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465743 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465744 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465745 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465746 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465747 | Remapped | Perfect | NC_000014.9:g.(454 22906_45422977)_(4 5451126_45451197)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,422,941 (-35, +36) | 45,451,161 (-35, +36) |
| essv23465724 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465725 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465726 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465727 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465728 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465729 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465730 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465731 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465732 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465733 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465734 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465735 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465736 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465737 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465738 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465739 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465740 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465741 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465742 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465743 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465744 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465745 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465746 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) | ||
| essv23465747 | Submitted genomic | NC_000014.8:g.(458 92109_45892180)_(4 5920329_45920400)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,892,144 (-35, +36) | 45,920,364 (-35, +36) |