esv3890403
- 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:4
- 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: 425 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3890403 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 152,176,551 | 152,176,551 |
| esv3890403 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 151,345,023 | 151,345,023 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25715474 | line1 insertion | HG03772 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,374 |
| essv25715475 | line1 insertion | HG03786 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,598 |
| essv25715476 | line1 insertion | HG03861 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,223 |
| essv25715477 | line1 insertion | HG04025 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,135 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25715474 | Remapped | Perfect | NC_000023.11:g.152 176551_152176552in s4800 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,176,551 | 152,176,551 |
| essv25715475 | Remapped | Perfect | NC_000023.11:g.152 176551_152176552in s4800 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,176,551 | 152,176,551 |
| essv25715476 | Remapped | Perfect | NC_000023.11:g.152 176551_152176552in s4800 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,176,551 | 152,176,551 |
| essv25715477 | Remapped | Perfect | NC_000023.11:g.152 176551_152176552in s4800 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 152,176,551 | 152,176,551 |
| essv25715474 | Submitted genomic | NC_000023.10:g.151 345023_151345024in s4800 | GRCh37 (hg19) | NC_000023.10 | ChrX | 151,345,023 | 151,345,023 | ||
| essv25715475 | Submitted genomic | NC_000023.10:g.151 345023_151345024in s4800 | GRCh37 (hg19) | NC_000023.10 | ChrX | 151,345,023 | 151,345,023 | ||
| essv25715476 | Submitted genomic | NC_000023.10:g.151 345023_151345024in s4800 | GRCh37 (hg19) | NC_000023.10 | ChrX | 151,345,023 | 151,345,023 | ||
| essv25715477 | Submitted genomic | NC_000023.10:g.151 345023_151345024in s4800 | GRCh37 (hg19) | NC_000023.10 | ChrX | 151,345,023 | 151,345,023 |