esv3884711
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:12
- 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: 120 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3884711 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| esv3884711 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24766415 | insertion | HG01443 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,338 |
| essv24766416 | insertion | HG02383 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,716 |
| essv24766417 | insertion | HG03021 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,183 |
| essv24766418 | insertion | NA18548 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,537 |
| essv24766419 | insertion | NA18595 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,365 |
| essv24766420 | insertion | NA18621 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,729 |
| essv24766421 | insertion | NA18624 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,592 |
| essv24766422 | insertion | NA18998 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,383 |
| essv24766423 | insertion | NA19059 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,396 |
| essv24766424 | insertion | NA19072 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,690 |
| essv24766425 | insertion | NA20878 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,377 |
| essv24766426 | insertion | NA21099 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,315 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24766415 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766416 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766417 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766418 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766419 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766420 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766421 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766422 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766423 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766424 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766425 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766426 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01926_9301931)ins8 01 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,931 (-5, +0) |
| essv24766415 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766416 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766417 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766418 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766419 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766420 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766421 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766422 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766423 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766424 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766425 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) | ||
| essv24766426 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82573_9282578)ins8 01 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,578 (-5, +0) |