A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582552



Internal ID18710750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17211273..17217498hg38UCSC Ensembl
Innerchr17:17114587..17120812hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386226
hg196226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9812770, essv9812771, essv9812769, essv9812766, essv9812768
Samples401036WS, 400675HC, 400482MD, 400041LJ, 401762SD
Known GenesFLCN
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)esv3582552
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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