A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576702



Internal ID18358214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114320518..114335437hg38UCSC Ensembl
Innerchr9:117082798..117097717hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3814920
hg1914920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181e212
Supporting Variantsessv9791508
Samples401432SB
Known GenesAKNA, ORM1, ORM2
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)esv3576702
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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