A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573347



Internal ID18701545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:109797821..109800430hg38UCSC Ensembl
Innerchr9:112560101..112562710hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2177e212
Supporting Variantsessv9791416, essv9791417
Samples401498HH, 401443JK
Known GenesPALM2, PALM2-AKAP2
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)esv3573347
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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