A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581745



Internal ID18709943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:64547334..64555515hg38UCSC Ensembl
Innerchr15:64839533..64847714hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg388182
hg198182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9808813, essv9808814
Samples401302LJ, 400072GR
Known GenesZNF609
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)esv3581745
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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