esv3863296
- 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:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,775
- 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: 227 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3863296 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 25,850,712 (-500, +0) | 25,882,486 (-0, +500) |
| esv3863296 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 25,872,259 (-500, +0) | 25,904,033 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv22313269 | deletion | HG03817 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,219 |
| essv22313270 | deletion | NA19439 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,084 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv22313269 | Remapped | Perfect | NC_000011.10:g.(25 850212_25850712)_( 25882486_25882986) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,850,712 (-500, +0) | 25,882,486 (-0, +500) |
| essv22313270 | Remapped | Perfect | NC_000011.10:g.(25 850212_25850712)_( 25882486_25882986) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,850,712 (-500, +0) | 25,882,486 (-0, +500) |
| essv22313269 | Submitted genomic | NC_000011.9:g.(258 71759_25872259)_(2 5904033_25904533)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 25,872,259 (-500, +0) | 25,904,033 (-0, +500) | ||
| essv22313270 | Submitted genomic | NC_000011.9:g.(258 71759_25872259)_(2 5904033_25904533)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 25,872,259 (-500, +0) | 25,904,033 (-0, +500) |