A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1451e212



Internal ID20149907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4848377..4862628hg38UCSC Ensembl
chr4:4850104..4864355hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3814252
hg1914252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569252, esv3569253
Samples400528LR, 400582WS
Known GenesMSX1
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)dgv1451e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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