esv3816993
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:84,379
- 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: 1102 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 1103 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3816993 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| esv3816993 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16802122 | deletion | SAMN00016972 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,408 |
| essv16802123 | deletion | SAMN00009093 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,361 |
| essv16802124 | deletion | SAMN00006412 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,016 |
| essv16802125 | deletion | SAMN00006428 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,754 |
| essv16802126 | deletion | SAMN01091081 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,380 |
| essv16802127 | deletion | SAMN00014324 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,048 |
| essv16802128 | deletion | SAMN01091113 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,695 |
| essv16802129 | deletion | SAMN00014415 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,601 |
| essv16802130 | deletion | SAMN00249837 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,698 |
| essv16802131 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
| essv16802132 | deletion | SAMN00001590 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,076 |
| essv16802133 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
| essv16802134 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
| essv16802135 | deletion | SAMN00001249 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,557 |
| essv16802136 | deletion | SAMN00001252 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,317 |
| essv16802137 | deletion | SAMN00007886 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,852 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16802122 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802123 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802124 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802125 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802126 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802127 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802128 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802129 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802130 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802131 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802132 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802133 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802134 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802135 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802136 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802137 | Remapped | Perfect | NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,826,614 (-1000, +500) | 6,910,992 (-500, +1000) |
| essv16802122 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802123 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802124 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802125 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802126 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802127 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802128 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802129 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802130 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802131 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802132 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802133 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802134 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802135 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802136 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) | ||
| essv16802137 | Submitted genomic | NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,744,655 (-1000, +500) | 6,829,033 (-500, +1000) |