A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569384



Internal ID18350896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39285217..39300409hg38UCSC Ensembl
Innerchr4:39286837..39302029hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3815193
hg1915193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1474e212
Supporting Variantsessv9770591, essv9770595, essv9770588, essv9770590, essv9770594, essv9770592, essv9770593
Samples401196CR, 400493KH, 401190WC, 401064FR, 401939GD, 402074RR, 400291VJ
Known GenesMIR1273H, RFC1, WDR19
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)esv3569384
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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