A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582912



Internal ID18364424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75459110..75466317hg38UCSC Ensembl
Innerchr17:73455191..73462398hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg387208
hg197208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9815314, essv9815313
Samples400732MA, 400739SS
Known GenesKIAA0195
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)esv3582912
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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