esv3817408
- 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:75,754
- 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: 605 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 602 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3817408 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| esv3817408 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16862288 | deletion | SAMN00006412 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,016 |
| essv16862289 | deletion | SAMN00014324 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,048 |
| essv16862290 | deletion | SAMN01091058 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,803 |
| essv16862291 | deletion | SAMN01036822 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,231 |
| essv16862292 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
| essv16862293 | deletion | SAMN00001590 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,076 |
| essv16862294 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
| essv16862295 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
| essv16862296 | deletion | SAMN00001249 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,557 |
| essv16862297 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv16862288 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862289 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862290 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862291 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862292 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862293 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862294 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862295 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862296 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862297 | Remapped | Perfect | NC_000023.11:g.(11 7379353_117380853) _(117455606_117457 106)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,380,353 (-1000, +500) | 117,456,106 (-500, +1000) |
| essv16862288 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862289 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862290 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862291 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862292 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862293 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862294 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862295 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862296 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) | ||
| essv16862297 | Submitted genomic | NC_000023.10:g.(11 6513316_116514816) _(116589569_116591 069)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,514,316 (-1000, +500) | 116,590,069 (-500, +1000) |