A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv238e212



Internal ID20148694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52097003..52106224hg38UCSC Ensembl
chr10:53856763..53865984hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg389222
hg199222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578898, esv3578897
Samples400583HS, 400337HG
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)dgv238e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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