A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584250



Internal ID18712448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:190461225..190477775hg38UCSC Ensembl
Innerchr2:191325951..191342501hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3816551
hg1916551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1199e212
Supporting Variantsessv9836236
Samples401438HT
Known GenesMFSD6
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)esv3584250
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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