esv3886047
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 171 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3886047 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,982,463 | 63,982,463 |
| esv3886047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 62,613,816 | 62,613,816 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24892375 | sva insertion | HG00409 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,535 |
| essv24892376 | sva insertion | HG02375 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,654 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24892375 | Remapped | Perfect | NC_000020.11:g.639 82463_63982464ins8 53 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,982,463 | 63,982,463 |
| essv24892376 | Remapped | Perfect | NC_000020.11:g.639 82463_63982464ins8 53 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,982,463 | 63,982,463 |
| essv24892375 | Submitted genomic | NC_000020.10:g.626 13816_62613817ins8 53 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,613,816 | 62,613,816 | ||
| essv24892376 | Submitted genomic | NC_000020.10:g.626 13816_62613817ins8 53 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,613,816 | 62,613,816 |