esv3887190
- 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:16
- 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: 171 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3887190 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| esv3887190 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25051970 | sva insertion | HG02012 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,921 |
| essv25051971 | sva insertion | HG02281 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,314 |
| essv25051972 | sva insertion | HG02479 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,605 |
| essv25051973 | sva insertion | HG02624 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,877 |
| essv25051974 | sva insertion | HG02675 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,193 |
| essv25051975 | sva insertion | HG02679 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,914 |
| essv25051976 | sva insertion | HG02715 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,067 |
| essv25051977 | sva insertion | HG02798 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,098 |
| essv25051978 | sva insertion | HG02970 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,596 |
| essv25051979 | sva insertion | HG03391 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,187 |
| essv25051980 | sva insertion | NA18879 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,191 |
| essv25051981 | sva insertion | NA19107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,302 |
| essv25051982 | sva insertion | NA19350 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,163 |
| essv25051983 | sva insertion | NA19397 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,070 |
| essv25051984 | sva insertion | NA19462 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,686 |
| essv25051985 | sva insertion | NA21133 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,666 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25051970 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051971 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051972 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051973 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051974 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051975 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051976 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051977 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051978 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051979 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051980 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051981 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051982 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051983 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051984 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051985 | Remapped | Perfect | NC_000022.11:g.247 01799_24701800ins3 93 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,701,799 | 24,701,799 |
| essv25051970 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051971 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051972 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051973 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051974 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051975 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051976 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051977 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051978 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051979 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051980 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051981 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051982 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051983 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051984 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 | ||
| essv25051985 | Submitted genomic | NC_000022.10:g.250 97766_25097767ins3 93 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,097,766 | 25,097,766 |