esv3889337
- 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:14
- 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: 408 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3889337 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| esv3889337 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25437126 | sva insertion | HG02307 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,107 |
| essv25437127 | sva insertion | HG02817 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,626 |
| essv25437128 | sva insertion | HG02971 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,790 |
| essv25437129 | sva insertion | HG02976 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,647 |
| essv25437130 | sva insertion | HG03130 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,940 |
| essv25437131 | sva insertion | HG03168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,002 |
| essv25437132 | sva insertion | HG03279 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,797 |
| essv25437133 | sva insertion | HG03366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,505 |
| essv25437134 | sva insertion | HG03370 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,015 |
| essv25437135 | sva insertion | HG03518 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,618 |
| essv25437136 | sva insertion | NA18865 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,199 |
| essv25437137 | sva insertion | NA19024 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,895 |
| essv25437138 | sva insertion | NA19129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,021 |
| essv25437139 | sva insertion | NA20339 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,646 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25437126 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437127 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437128 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437129 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437130 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437131 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437132 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437133 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437134 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437135 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437136 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437137 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437138 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437139 | Remapped | Perfect | NC_000023.11:g.807 13781_80713782ins1 540 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,713,781 | 80,713,781 |
| essv25437126 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437127 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437128 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437129 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437130 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437131 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437132 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437133 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437134 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437135 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437136 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437137 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437138 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 | ||
| essv25437139 | Submitted genomic | NC_000023.10:g.799 69280_79969281ins1 540 | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,969,280 | 79,969,280 |