esv3867891
- 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:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,794
- 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: 164 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 164 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 |
---|---|---|---|---|---|---|---|---|---|
esv3867891 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 68,048,854 (-5, +5) | 68,058,647 (-5, +5) |
esv3867891 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 68,442,634 (-5, +5) | 68,452,427 (-5, +5) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv22870765 | deletion | HG00525 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,396 |
essv22870766 | deletion | HG00705 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,181 |
essv22870767 | deletion | HG01865 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,541 |
essv22870768 | deletion | HG02138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,349 |
essv22870769 | deletion | HG02180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,284 |
essv22870770 | deletion | HG02374 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,698 |
essv22870771 | deletion | HG02397 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,636 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv22870765 | Remapped | Perfect | NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 68,048,854 (-5, +5) | 68,058,647 (-5, +5) |
essv22870766 | Remapped | Perfect | NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 68,048,854 (-5, +5) | 68,058,647 (-5, +5) |
essv22870767 | Remapped | Perfect | NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 68,048,854 (-5, +5) | 68,058,647 (-5, +5) |
essv22870768 | Remapped | Perfect | NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 68,048,854 (-5, +5) | 68,058,647 (-5, +5) |
essv22870769 | Remapped | Perfect | NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 68,048,854 (-5, +5) | 68,058,647 (-5, +5) |
essv22870770 | Remapped | Perfect | NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 68,048,854 (-5, +5) | 68,058,647 (-5, +5) |
essv22870771 | Remapped | Perfect | NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 68,048,854 (-5, +5) | 68,058,647 (-5, +5) |
essv22870765 | Submitted genomic | NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 68,442,634 (-5, +5) | 68,452,427 (-5, +5) | ||
essv22870766 | Submitted genomic | NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 68,442,634 (-5, +5) | 68,452,427 (-5, +5) | ||
essv22870767 | Submitted genomic | NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 68,442,634 (-5, +5) | 68,452,427 (-5, +5) | ||
essv22870768 | Submitted genomic | NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 68,442,634 (-5, +5) | 68,452,427 (-5, +5) | ||
essv22870769 | Submitted genomic | NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 68,442,634 (-5, +5) | 68,452,427 (-5, +5) | ||
essv22870770 | Submitted genomic | NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 68,442,634 (-5, +5) | 68,452,427 (-5, +5) | ||
essv22870771 | Submitted genomic | NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 68,442,634 (-5, +5) | 68,452,427 (-5, +5) |