esv3838270
- 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:246,445
- 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: 877 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 877 SVs from 72 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3838270 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 175,023,730 (-28, +29) | 175,270,174 (-28, +29) |
esv3838270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 175,944,881 (-28, +29) | 176,191,325 (-28, +29) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv19255729 | deletion | NA20859 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,422 |
essv19255730 | deletion | NA20895 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,398 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv19255729 | Remapped | Perfect | NC_000004.12:g.(17 5023702_175023759) _(175270146_175270 203)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 175,023,730 (-28, +29) | 175,270,174 (-28, +29) |
essv19255730 | Remapped | Perfect | NC_000004.12:g.(17 5023702_175023759) _(175270146_175270 203)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 175,023,730 (-28, +29) | 175,270,174 (-28, +29) |
essv19255729 | Submitted genomic | NC_000004.11:g.(17 5944853_175944910) _(176191297_176191 354)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 175,944,881 (-28, +29) | 176,191,325 (-28, +29) | ||
essv19255730 | Submitted genomic | NC_000004.11:g.(17 5944853_175944910) _(176191297_176191 354)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 175,944,881 (-28, +29) | 176,191,325 (-28, +29) |