esv3886949
- 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:10,410
- 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: 363 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 363 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3886949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 45,866,299 (-500, +0) | 45,876,708 (-0, +500) |
| esv3886949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 47,286,213 (-500, +0) | 47,296,622 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25009096 | deletion | HG00628 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,333 |
| essv25009097 | deletion | NA19908 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,927 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25009096 | Remapped | Perfect | NC_000021.9:g.(458 65799_45866299)_(4 5876708_45877208)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 45,866,299 (-500, +0) | 45,876,708 (-0, +500) |
| essv25009097 | Remapped | Perfect | NC_000021.9:g.(458 65799_45866299)_(4 5876708_45877208)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 45,866,299 (-500, +0) | 45,876,708 (-0, +500) |
| essv25009096 | Submitted genomic | NC_000021.8:g.(472 85713_47286213)_(4 7296622_47297122)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,286,213 (-500, +0) | 47,296,622 (-0, +500) | ||
| essv25009097 | Submitted genomic | NC_000021.8:g.(472 85713_47286213)_(4 7296622_47297122)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,286,213 (-500, +0) | 47,296,622 (-0, +500) |