A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578895



Internal ID18360407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51622504..51645108hg38UCSC Ensembl
Innerchr10:53382264..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 Variantsdgv237e212
Supporting Variantsessv9793627
Samples400021ME
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)esv3578895
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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