esv3816427
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- 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 Project Consortium et al. 2015
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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3816427 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 145,136,403 (-1000, +500) | 145,227,931 (-500, +1000) |
| esv3816427 | 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 |
|---|---|---|---|---|---|---|
| essv16719546 | deletion | SAMN00009088 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,888 |
| essv16719547 | deletion | SAMN00006412 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,016 |
| essv16719548 | deletion | SAMN00014324 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,048 |
| essv16719549 | deletion | SAMN01036778 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,213 |
| essv16719550 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
| essv16719551 | deletion | SAMN00001590 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,076 |
| essv16719552 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
| essv16719553 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
| essv16719554 | deletion | SAMN00001249 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,557 |
| essv16719555 | deletion | SAMN00001252 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,317 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16719546 | 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) |
| essv16719547 | 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) |
| essv16719548 | 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) |
| essv16719549 | 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) |
| essv16719550 | 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) |
| essv16719551 | 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) |
| essv16719552 | 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) |
| essv16719553 | 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) |
| essv16719554 | 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) |
| essv16719555 | 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) |
| essv16719546 | 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) | ||
| essv16719547 | 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) | ||
| essv16719548 | 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) | ||
| essv16719549 | 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) | ||
| essv16719550 | 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) | ||
| essv16719551 | 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) | ||
| essv16719552 | 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) | ||
| essv16719553 | 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) | ||
| essv16719554 | 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) | ||
| essv16719555 | 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) |