esv3889981
- 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: 416 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 416 SVs from 23 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3889981 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 124,472,355 | 124,472,355 |
esv3889981 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 123,606,205 | 123,606,205 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv25600919 | alu insertion | HG01139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,894 |
essv25600920 | alu insertion | HG02645 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,207 |
essv25600921 | alu insertion | HG03074 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,174 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv25600919 | Remapped | Perfect | NC_000023.11:g.124 472355_124472356in s279 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,472,355 | 124,472,355 |
essv25600920 | Remapped | Perfect | NC_000023.11:g.124 472355_124472356in s279 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,472,355 | 124,472,355 |
essv25600921 | Remapped | Perfect | NC_000023.11:g.124 472355_124472356in s279 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,472,355 | 124,472,355 |
essv25600919 | Submitted genomic | NC_000023.10:g.123 606205_123606206in s279 | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,606,205 | 123,606,205 | ||
essv25600920 | Submitted genomic | NC_000023.10:g.123 606205_123606206in s279 | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,606,205 | 123,606,205 | ||
essv25600921 | Submitted genomic | NC_000023.10:g.123 606205_123606206in s279 | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,606,205 | 123,606,205 |