A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv564e212



Internal ID22783491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82570838..82608982hg38UCSC Ensembl
chr13:83144973..83183117hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3838145
hg1938145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580781, esv3580787
Samples400572PJ, 400121PL, 401448BJ, 400844GP, 400854SG, 400249BC, 400712GC, 400769SL, 400205SP, 400315DA, 401154BR
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv564e212
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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