A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569058



Internal ID18697256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151795276..151831226hg38UCSC Ensembl
Innerchr3:151513064..151549014hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3835951
hg1935951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419e212
Supporting Variantsessv9768552, essv9768554, essv9768551, essv9768560, essv9768553, essv9768555, essv9768562, essv9768559, essv9768561, essv9768558, essv9768563, essv9768557
Samples401420PJ, 401986LC, 400572PJ, 400655WB, 401384BP, 401536BD, 400627CC, 401353BC, 401505WI, 401725MR, 400328LM, 400508RD
Known GenesAADAC, MIR548H2
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)esv3569058
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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