A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578887



Internal ID18360399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51442945..51451689hg38UCSC Ensembl
Innerchr10:53202705..53211449hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg388745
hg198745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9793604, essv9793603
Samples401414CR, 400626FC
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)esv3578887
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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