A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573246



Internal ID18354758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69493720..69496058hg38UCSC Ensembl
Innerchr9:72108636..72110974hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg382339
hg192339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791029, essv9791028
Samples400203NA, 400785AK
Known GenesAPBA1
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)esv3573246
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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