A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573421



Internal ID18354933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135459755..135484015hg38UCSC Ensembl
Innerchr9:138351601..138375861hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3824261
hg1924261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791859, essv9791860, essv9791861
Samples400061DE, 401728WK, 400178RH
Known GenesPPP1R26, PPP1R26-AS1
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)esv3573421
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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