esv3890462
- 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:3
- 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: 545 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 531 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3890462 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 155,047,150 | 155,047,150 |
| esv3890462 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,275,425 | 154,275,425 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25735807 | alu insertion | HG00290 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,722 |
| essv25735808 | alu insertion | NA19471 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,678 |
| essv25735809 | alu insertion | NA20517 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,506 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25735807 | Remapped | Perfect | NC_000023.11:g.155 047150_155047151in s280 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,047,150 | 155,047,150 |
| essv25735808 | Remapped | Perfect | NC_000023.11:g.155 047150_155047151in s280 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,047,150 | 155,047,150 |
| essv25735809 | Remapped | Perfect | NC_000023.11:g.155 047150_155047151in s280 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,047,150 | 155,047,150 |
| essv25735807 | Submitted genomic | NC_000023.10:g.154 275425_154275426in s280 | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,275,425 | 154,275,425 | ||
| essv25735808 | Submitted genomic | NC_000023.10:g.154 275425_154275426in s280 | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,275,425 | 154,275,425 | ||
| essv25735809 | Submitted genomic | NC_000023.10:g.154 275425_154275426in s280 | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,275,425 | 154,275,425 |