esv3868035
- 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:55,113
- 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: 297 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 297 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3868035 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 74,004,415 (-500, +0) | 74,059,527 (-0, +500) |
| esv3868035 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 74,398,195 (-500, +0) | 74,453,307 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv22889446 | deletion | HG00380 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,305 |
| essv22889447 | deletion | HG03817 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,219 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv22889446 | Remapped | Perfect | NC_000012.12:g.(74 003915_74004415)_( 74059527_74060027) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 74,004,415 (-500, +0) | 74,059,527 (-0, +500) |
| essv22889447 | Remapped | Perfect | NC_000012.12:g.(74 003915_74004415)_( 74059527_74060027) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 74,004,415 (-500, +0) | 74,059,527 (-0, +500) |
| essv22889446 | Submitted genomic | NC_000012.11:g.(74 397695_74398195)_( 74453307_74453807) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 74,398,195 (-500, +0) | 74,453,307 (-0, +500) | ||
| essv22889447 | Submitted genomic | NC_000012.11:g.(74 397695_74398195)_( 74453307_74453807) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 74,398,195 (-500, +0) | 74,453,307 (-0, +500) |