A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv237e212



Internal ID20148693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51622504..51645108hg38UCSC Ensembl
chr10:53382264..53404868hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3822605
hg1922605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578894, esv3578895
Samples400021ME, 400122PL
Known GenesPRKG1
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)dgv237e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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