A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569129



Internal ID18350641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:175360717..176022379hg38UCSC Ensembl
Innerchr3:175078506..175740167hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38661663
hg19661662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9768991
Samples400199SA
Known GenesMIR4789, MIR548AY, NAALADL2
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)esv3569129
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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