esv3890079
- 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:7
- 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: 410 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 410 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 |
---|---|---|---|---|---|---|---|---|---|
esv3890079 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 130,466,534 | 130,466,534 |
esv3890079 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 129,600,508 | 129,600,508 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv25620573 | line1 insertion | HG01800 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,324 |
essv25620574 | line1 insertion | HG01849 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,609 |
essv25620575 | line1 insertion | NA18552 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,215 |
essv25620576 | line1 insertion | NA18564 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,475 |
essv25620577 | line1 insertion | NA18968 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,115 |
essv25620578 | line1 insertion | NA18970 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,526 |
essv25620579 | line1 insertion | NA18981 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv25620573 | Remapped | Perfect | NC_000023.11:g.130 466534_130466535in s2005 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 130,466,534 | 130,466,534 |
essv25620574 | Remapped | Perfect | NC_000023.11:g.130 466534_130466535in s2005 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 130,466,534 | 130,466,534 |
essv25620575 | Remapped | Perfect | NC_000023.11:g.130 466534_130466535in s2005 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 130,466,534 | 130,466,534 |
essv25620576 | Remapped | Perfect | NC_000023.11:g.130 466534_130466535in s2005 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 130,466,534 | 130,466,534 |
essv25620577 | Remapped | Perfect | NC_000023.11:g.130 466534_130466535in s2005 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 130,466,534 | 130,466,534 |
essv25620578 | Remapped | Perfect | NC_000023.11:g.130 466534_130466535in s2005 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 130,466,534 | 130,466,534 |
essv25620579 | Remapped | Perfect | NC_000023.11:g.130 466534_130466535in s2005 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 130,466,534 | 130,466,534 |
essv25620573 | Submitted genomic | NC_000023.10:g.129 600508_129600509in s2005 | GRCh37 (hg19) | NC_000023.10 | ChrX | 129,600,508 | 129,600,508 | ||
essv25620574 | Submitted genomic | NC_000023.10:g.129 600508_129600509in s2005 | GRCh37 (hg19) | NC_000023.10 | ChrX | 129,600,508 | 129,600,508 | ||
essv25620575 | Submitted genomic | NC_000023.10:g.129 600508_129600509in s2005 | GRCh37 (hg19) | NC_000023.10 | ChrX | 129,600,508 | 129,600,508 | ||
essv25620576 | Submitted genomic | NC_000023.10:g.129 600508_129600509in s2005 | GRCh37 (hg19) | NC_000023.10 | ChrX | 129,600,508 | 129,600,508 | ||
essv25620577 | Submitted genomic | NC_000023.10:g.129 600508_129600509in s2005 | GRCh37 (hg19) | NC_000023.10 | ChrX | 129,600,508 | 129,600,508 | ||
essv25620578 | Submitted genomic | NC_000023.10:g.129 600508_129600509in s2005 | GRCh37 (hg19) | NC_000023.10 | ChrX | 129,600,508 | 129,600,508 | ||
essv25620579 | Submitted genomic | NC_000023.10:g.129 600508_129600509in s2005 | GRCh37 (hg19) | NC_000023.10 | ChrX | 129,600,508 | 129,600,508 |