esv3889947
- 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: 414 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 414 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3889947 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 122,447,433 | 122,447,433 |
| esv3889947 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 121,581,286 | 121,581,286 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25589836 | alu insertion | HG03091 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,965 |
| essv25589837 | alu insertion | HG03446 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25589836 | Remapped | Perfect | NC_000023.11:g.122 447433_122447434in s276 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 122,447,433 | 122,447,433 |
| essv25589837 | Remapped | Perfect | NC_000023.11:g.122 447433_122447434in s276 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 122,447,433 | 122,447,433 |
| essv25589836 | Submitted genomic | NC_000023.10:g.121 581286_121581287in s276 | GRCh37 (hg19) | NC_000023.10 | ChrX | 121,581,286 | 121,581,286 | ||
| essv25589837 | Submitted genomic | NC_000023.10:g.121 581286_121581287in s276 | GRCh37 (hg19) | NC_000023.10 | ChrX | 121,581,286 | 121,581,286 |