esv3817755
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,931
- 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 46 studies. See in: genome view
Overlapping variant regions from other studies: 645 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3817755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| esv3817755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16918777 | deletion | SAMN00009088 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,888 |
| essv16918778 | deletion | SAMN00009151 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,226 |
| essv16918779 | deletion | SAMN00249679 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,809 |
| essv16918780 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
| essv16918781 | deletion | SAMN00001590 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,076 |
| essv16918782 | deletion | SAMN00000515 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,745 |
| essv16918783 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
| essv16918784 | deletion | SAMN00007714 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,828 |
| essv16918785 | deletion | SAMN00004473 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,437 |
| essv16918786 | deletion | SAMN00007830 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,530 |
| essv16918787 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
| essv16918788 | deletion | SAMN00001249 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,557 |
| essv16918789 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv16918777 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918778 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918779 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918780 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918781 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918782 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918783 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918784 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918785 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918786 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918787 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918788 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918789 | Remapped | Perfect | NC_000023.11:g.(15 5532625_155532649) _(155548555_155548 579)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,532,637 (-12, +12) | 155,548,567 (-12, +12) |
| essv16918777 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918778 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918779 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918780 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918781 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918782 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918783 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918784 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918785 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918786 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918787 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918788 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) | ||
| essv16918789 | Submitted genomic | NC_000023.10:g.(15 4762286_154762310) _(154778216_154778 240)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,762,298 (-12, +12) | 154,778,228 (-12, +12) |