esv3887494
- 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:28
- 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: 112 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3887494 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| esv3887494 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25086532 | sva insertion | HG02255 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,880 |
| essv25086533 | sva insertion | HG02322 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,722 |
| essv25086534 | sva insertion | HG02568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,026 |
| essv25086535 | sva insertion | HG02573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,151 |
| essv25086536 | sva insertion | HG02594 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,073 |
| essv25086537 | sva insertion | HG02819 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,025 |
| essv25086538 | sva insertion | HG02982 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,258 |
| essv25086539 | sva insertion | HG03046 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,832 |
| essv25086540 | sva insertion | HG03054 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,343 |
| essv25086541 | sva insertion | HG03069 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,750 |
| essv25086542 | sva insertion | HG03077 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,244 |
| essv25086543 | sva insertion | HG03088 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,411 |
| essv25086544 | sva insertion | HG03133 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,119 |
| essv25086545 | sva insertion | HG03139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,152 |
| essv25086546 | sva insertion | HG03163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,980 |
| essv25086547 | sva insertion | HG03246 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,863 |
| essv25086548 | sva insertion | HG03280 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,000 |
| essv25086549 | sva insertion | HG03458 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,820 |
| essv25086550 | sva insertion | HG03478 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,888 |
| essv25086551 | sva insertion | HG03558 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,190 |
| essv25086552 | sva insertion | NA19137 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,986 |
| essv25086553 | sva insertion | NA19201 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,189 |
| essv25086554 | sva insertion | NA19222 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,939 |
| essv25086555 | sva insertion | NA19248 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,978 |
| essv25086556 | sva insertion | NA19256 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,295 |
| essv25086557 | sva insertion | NA19328 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,114 |
| essv25086558 | sva insertion | NA19466 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,912 |
| essv25086559 | sva insertion | NA19701 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,831 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25086532 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086533 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086534 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086535 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086536 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086537 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086538 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086539 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086540 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086541 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086542 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086543 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086544 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086545 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086546 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086547 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086548 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086549 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086550 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086551 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086552 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086553 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086554 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086555 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086556 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086557 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086558 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086559 | Remapped | Perfect | NC_000022.11:g.378 17186_37817187ins8 58 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,817,186 | 37,817,186 |
| essv25086532 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086533 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086534 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086535 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086536 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086537 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086538 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086539 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086540 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086541 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086542 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086543 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086544 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086545 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086546 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086547 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086548 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086549 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086550 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086551 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086552 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086553 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086554 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086555 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086556 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086557 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086558 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 | ||
| essv25086559 | Submitted genomic | NC_000022.10:g.382 13193_38213194ins8 58 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,213,193 | 38,213,193 |