A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582569



Internal ID18710767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20340115..20342924hg38UCSC Ensembl
Innerchr17:20243428..20246237hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382810
hg192810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9812806, essv9812807
Samples401426WD, 400650RM
Known GenesCCDC144CP
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)esv3582569
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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