esv3888205
- 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:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:44,889
- 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: 714 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 715 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3888205 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| esv3888205 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25167456 | deletion | HG00154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,446 |
| essv25167457 | deletion | HG00361 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,647 |
| essv25167458 | deletion | HG01853 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,316 |
| essv25167459 | deletion | HG02409 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,656 |
| essv25167460 | deletion | HG03511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,980 |
| essv25167461 | deletion | NA18520 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,716 |
| essv25167462 | deletion | NA18596 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,369 |
| essv25167463 | deletion | NA19332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,777 |
| essv25167464 | deletion | NA20506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,161 |
| essv25167465 | deletion | NA20530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,153 |
| essv25167466 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25167456 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167457 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167458 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167459 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167460 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167461 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167462 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167463 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167464 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167465 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167466 | Remapped | Perfect | NC_000023.11:g.(83 22148_8322406)_(83 67294_8367532)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,322,406 (-258, +0) | 8,367,294 (-0, +238) |
| essv25167456 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167457 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167458 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167459 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167460 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167461 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167462 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167463 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167464 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167465 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) | ||
| essv25167466 | Submitted genomic | NC_000023.10:g.(82 90189_8290447)_(83 35335_8335573)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,290,447 (-258, +0) | 8,335,335 (-0, +238) |