A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575691



Internal ID18357203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40820064..40825701hg38UCSC Ensembl
Innerchr4:40822081..40827718hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg385638
hg195638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1477e212
Supporting Variantsessv9770607, essv9770606
Samples400110MD, 400732MA
Known GenesAPBB2
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)esv3575691
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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