esv3890505
- 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: 478 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 466 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3890505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 155,680,227 | 155,680,227 |
esv3890505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,909,888 | 154,909,888 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv25751767 | alu insertion | HG02611 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,051 |
essv25751768 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv25751767 | Remapped | Perfect | NC_000023.11:g.155 680227_155680228in s258 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,680,227 | 155,680,227 |
essv25751768 | Remapped | Perfect | NC_000023.11:g.155 680227_155680228in s258 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,680,227 | 155,680,227 |
essv25751767 | Submitted genomic | NC_000023.10:g.154 909888_154909889in s258 | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,909,888 | 154,909,888 | ||
essv25751768 | Submitted genomic | NC_000023.10:g.154 909888_154909889in s258 | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,909,888 | 154,909,888 |