esv3849682
- 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:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,636
- 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: 591 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 598 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3849682 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| esv3849682 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv20692422 | copy number loss | HG00115 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,746 |
| essv20692423 | copy number loss | HG00119 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,595 |
| essv20692424 | copy number loss | HG01438 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,233 |
| essv20692425 | copy number loss | HG01618 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,073 |
| essv20692426 | copy number loss | HG01870 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,133 |
| essv20692427 | copy number loss | HG02262 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,572 |
| essv20692428 | copy number loss | HG02292 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,911 |
| essv20692429 | copy number loss | HG03646 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,556 |
| essv20692430 | copy number loss | HG03757 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,223 |
| essv20692431 | copy number loss | HG04080 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,113 |
| essv20692432 | copy number loss | HG04107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,794 |
| essv20692433 | copy number loss | HG04206 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,791 |
| essv20692434 | copy number loss | NA11840 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,428 |
| essv20692435 | copy number loss | NA12058 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,433 |
| essv20692436 | copy number loss | NA19001 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,369 |
| essv20692437 | copy number loss | NA20502 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,989 |
| essv20692438 | copy number loss | NA20787 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,600 |
| essv20692439 | copy number loss | NA20901 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,465 |
| essv20692440 | copy number loss | NA21103 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,842 |
| essv20692441 | copy number gain | HG01933 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,343 |
| essv20692442 | copy number gain | HG03055 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,895 |
| essv20692443 | copy number gain | HG03856 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,504 |
| essv20692444 | copy number gain | HG04182 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,199 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv20692422 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692423 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692424 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692425 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692426 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692427 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692428 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692429 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692430 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692431 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692432 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692433 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692434 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692435 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692436 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692437 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692438 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692439 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692440 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692441 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692442 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692443 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692444 | Remapped | Perfect | NC_000007.14:g.653 67884_65385519dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,367,884 | 65,385,519 |
| essv20692422 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692423 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692424 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692425 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692426 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692427 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692428 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692429 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692430 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692431 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692432 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692433 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692434 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692435 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692436 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692437 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692438 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692439 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692440 | Submitted genomic | NC_000007.13:g.648 32797_64850432del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692441 | Submitted genomic | NC_000007.13:g.648 32797_64850432dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692442 | Submitted genomic | NC_000007.13:g.648 32797_64850432dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692443 | Submitted genomic | NC_000007.13:g.648 32797_64850432dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 | ||
| essv20692444 | Submitted genomic | NC_000007.13:g.648 32797_64850432dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,832,797 | 64,850,432 |