A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573255



Internal ID18701453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:70186775..70197835hg38UCSC Ensembl
Innerchr9:72801691..72812751hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3811061
hg1911061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2158e212
Supporting Variantsessv9791034, essv9791032
Samples400302HW, 401011PJ
Known GenesMAMDC2
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)esv3573255
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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