esv3844934
- 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:25
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,733
- 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: 257 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3844934 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| esv3844934 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv20178773 | deletion | HG01990 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,201 |
| essv20178774 | deletion | HG02462 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,865 |
| essv20178775 | deletion | HG02536 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,450 |
| essv20178776 | deletion | HG02562 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,911 |
| essv20178777 | deletion | HG02573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,151 |
| essv20178778 | deletion | HG02613 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,053 |
| essv20178779 | deletion | HG02646 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,937 |
| essv20178780 | deletion | HG02675 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,193 |
| essv20178781 | deletion | HG02763 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 3,095 |
| essv20178782 | deletion | HG02870 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,136 |
| essv20178783 | deletion | HG02973 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,061 |
| essv20178784 | deletion | HG03091 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,965 |
| essv20178785 | deletion | HG03096 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,144 |
| essv20178786 | deletion | HG03159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,802 |
| essv20178787 | deletion | HG03280 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,000 |
| essv20178788 | deletion | HG03449 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,493 |
| essv20178789 | deletion | HG03572 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,576 |
| essv20178790 | deletion | NA18522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,533 |
| essv20178791 | deletion | NA18907 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,088 |
| essv20178792 | deletion | NA19334 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,034 |
| essv20178793 | deletion | NA19434 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,500 |
| essv20178794 | deletion | NA19471 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,678 |
| essv20178795 | deletion | NA19474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,765 |
| essv20178796 | deletion | NA19917 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,589 |
| essv20178797 | deletion | NA20334 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,123 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv20178773 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178774 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178775 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178776 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178777 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178778 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178779 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178780 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178781 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178782 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178783 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178784 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178785 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178786 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178787 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178788 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178789 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178790 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178791 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178792 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178793 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178794 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178795 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178796 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178797 | Remapped | Perfect | NC_000006.12:g.(57 975420_57975459)_( 57988152_57988191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,975,439 (-19, +20) | 57,988,171 (-19, +20) |
| essv20178773 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178774 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178775 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178776 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178777 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178778 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178779 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178780 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178781 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178782 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178783 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178784 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178785 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178786 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178787 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178788 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178789 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178790 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178791 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178792 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178793 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178794 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178795 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178796 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) | ||
| essv20178797 | Submitted genomic | NC_000006.11:g.(58 301698_58301737)_( 58314430_58314469) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 58,301,717 (-19, +20) | 58,314,449 (-19, +20) |