esv3816869
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89,303
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 858 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 859 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3816869 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| esv3816869 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16785444 | deletion | SAMN00009088 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,888 |
| essv16785445 | deletion | SAMN00006412 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,016 |
| essv16785446 | deletion | SAMN00014324 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,048 |
| essv16785447 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
| essv16785448 | deletion | SAMN00001590 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,076 |
| essv16785449 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
| essv16785450 | deletion | SAMN00007734 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,083 |
| essv16785451 | deletion | SAMN00004481 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,926 |
| essv16785452 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
| essv16785453 | deletion | SAMN00001249 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,557 |
| essv16785454 | deletion | SAMN00001252 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,317 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16785444 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785445 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785446 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785447 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785448 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785449 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785450 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785451 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785452 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785453 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785454 | Remapped | Perfect | NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,702,934 (-6, +7) | 32,792,236 (-6, +7) |
| essv16785444 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785445 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785446 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785447 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785448 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785449 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785450 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785451 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785452 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785453 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) | ||
| essv16785454 | Submitted genomic | NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,721,051 (-6, +7) | 32,810,353 (-6, +7) |