A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578242



Internal ID18359754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168041202..168058148hg38UCSC Ensembl
Innerchr1:168010440..168027386hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3816947
hg1916947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9794100, essv9794111
Samples400270BD, 400298ME
Known GenesDCAF6
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)esv3578242
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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