esv3857195
- 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:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:38,353
- 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: 743 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 749 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3857195 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| esv3857195 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21524675 | deletion | HG00106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,290 |
| essv21524676 | deletion | HG00177 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,002 |
| essv21524677 | deletion | HG00243 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,579 |
| essv21524678 | deletion | HG00326 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,173 |
| essv21524679 | deletion | HG03391 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,187 |
| essv21524680 | deletion | HG04017 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,502 |
| essv21524681 | deletion | NA07357 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,777 |
| essv21524682 | deletion | NA12763 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,503 |
| essv21524683 | deletion | NA19921 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,712 |
| essv21524684 | deletion | NA20759 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,723 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21524675 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524676 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524677 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524678 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524679 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524680 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524681 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524682 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524683 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524684 | Remapped | Perfect | NC_000009.12:g.(28 705876_28707376)_( 28744728_28746228) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,706,876 (-1000, +500) | 28,745,228 (-500, +1000) |
| essv21524675 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524676 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524677 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524678 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524679 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524680 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524681 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524682 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524683 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) | ||
| essv21524684 | Submitted genomic | NC_000009.11:g.(28 705874_28707374)_( 28744726_28746226) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,706,874 (-1000, +500) | 28,745,226 (-500, +1000) |