A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv210n27



Internal ID20132468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91109484..91258928hg38UCSC Ensembl
chr12:91503261..91652705hg19UCSC Ensembl
chr12:90027392..90176836hg18UCSC Ensembl
chr12:90005729..90155173hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38149445
hg19149445
hg18149445
hg17149445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455688, nsv455690, nsv455689
SamplesHGDP00145, HGDP00154, HGDP00155
Known GenesDCN, LUM
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)dgv210n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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