esv3825840
- 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:240,661
- 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: 532 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 532 SVs from 64 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3825840 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 121,898,931 | 122,139,591 |
esv3825840 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 122,656,507 | 122,897,167 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv17826045 | duplication | HG02283 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,207 |
essv17826046 | duplication | HG03978 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,522 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv17826045 | Remapped | Perfect | NC_000002.12:g.121 898931_122139591du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 121,898,931 | 122,139,591 |
essv17826046 | Remapped | Perfect | NC_000002.12:g.121 898931_122139591du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 121,898,931 | 122,139,591 |
essv17826045 | Submitted genomic | NC_000002.11:g.122 656507_122897167du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 122,656,507 | 122,897,167 | ||
essv17826046 | Submitted genomic | NC_000002.11:g.122 656507_122897167du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 122,656,507 | 122,897,167 |