A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577702



Internal ID18359214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3092135..3104831hg38UCSC Ensembl
Innerchr1:3008699..3021395hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3812697
hg1912697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6e212
Supporting Variantsessv9784199, essv9784088, essv9784310, essv9784866, essv9784755, essv9784644, essv9783977, essv9784533, essv9784422
Samples401459HF, 40031BA, 401733CG, 400523GB, 400241CP, 401390DG, 400836LK, 400793BR, 401025SM
Known GenesPRDM16
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)esv3577702
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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