A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv812n27



Internal ID22767541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:53387199..53522557hg38UCSC Ensembl
chr7:53454892..53590250hg19UCSC Ensembl
chr7:53422386..53557744hg18UCSC Ensembl
chr7:53229101..53364459hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38135359
hg19135359
hg18135359
hg17135359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464453, nsv464460, nsv464457, nsv464452, nsv464456, nsv464454, nsv464462, nsv464458, nsv464455, nsv464459, nsv464451
SamplesHGDP00614, HGDP00738, HGDP00041, HGDP00407, HGDP00567, HGDP00058, HGDP00098, HGDP00643, HGDP00876, HGDP01172, HGDP00338
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv812n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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