esv3870677
- 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:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,650
- 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: 265 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3870677 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 62,709,396 (-3, +4) | 62,719,045 (-3, +4) |
| esv3870677 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 63,283,529 (-3, +4) | 63,293,178 (-3, +4) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23181572 | deletion | HG00581 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,201 |
| essv23181573 | deletion | HG00705 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,181 |
| essv23181574 | deletion | HG01817 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,389 |
| essv23181575 | deletion | HG02250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,687 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23181572 | Remapped | Perfect | NC_000013.11:g.(62 709393_62709400)_( 62719042_62719049) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 62,709,396 (-3, +4) | 62,719,045 (-3, +4) |
| essv23181573 | Remapped | Perfect | NC_000013.11:g.(62 709393_62709400)_( 62719042_62719049) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 62,709,396 (-3, +4) | 62,719,045 (-3, +4) |
| essv23181574 | Remapped | Perfect | NC_000013.11:g.(62 709393_62709400)_( 62719042_62719049) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 62,709,396 (-3, +4) | 62,719,045 (-3, +4) |
| essv23181575 | Remapped | Perfect | NC_000013.11:g.(62 709393_62709400)_( 62719042_62719049) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 62,709,396 (-3, +4) | 62,719,045 (-3, +4) |
| essv23181572 | Submitted genomic | NC_000013.10:g.(63 283526_63283533)_( 63293175_63293182) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 63,283,529 (-3, +4) | 63,293,178 (-3, +4) | ||
| essv23181573 | Submitted genomic | NC_000013.10:g.(63 283526_63283533)_( 63293175_63293182) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 63,283,529 (-3, +4) | 63,293,178 (-3, +4) | ||
| essv23181574 | Submitted genomic | NC_000013.10:g.(63 283526_63283533)_( 63293175_63293182) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 63,283,529 (-3, +4) | 63,293,178 (-3, +4) | ||
| essv23181575 | Submitted genomic | NC_000013.10:g.(63 283526_63283533)_( 63293175_63293182) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 63,283,529 (-3, +4) | 63,293,178 (-3, +4) |