esv3890302
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,529
- 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: 651 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 644 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3890302 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| esv3890302 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25683436 | deletion | HG00154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,446 |
| essv25683437 | deletion | HG00361 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,647 |
| essv25683438 | deletion | HG01366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,679 |
| essv25683439 | deletion | HG03052 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,010 |
| essv25683440 | deletion | HG03511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,980 |
| essv25683441 | deletion | NA18520 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,716 |
| essv25683442 | deletion | NA19332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,777 |
| essv25683443 | deletion | NA20506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,161 |
| essv25683444 | deletion | NA20530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,153 |
| essv25683445 | deletion | NA20533 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,922 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25683436 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683437 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683438 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683439 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683440 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683441 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683442 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683443 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683444 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683445 | Remapped | Perfect | NC_000023.11:g.(14 5135403_145136903) _(145227431_145228 931)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| essv25683436 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683437 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683438 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683439 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683440 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683441 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683442 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683443 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683444 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) | ||
| essv25683445 | Submitted genomic | NC_000023.10:g.(14 4216923_144218423) _(144308951_144310 451)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 144,217,923 (-1000, +500) | 144,309,451 (-500, +1000) |