A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571056



Internal ID18352568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52009953..52013517hg38UCSC Ensembl
Innerchr6:51874751..51878315hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg383565
hg193565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9779313, essv9779310
Samples401359HF, 401864CV
Known GenesPKHD1
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)esv3571056
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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