A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582553



Internal ID18364065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17205292..17213299hg38UCSC Ensembl
Innerchr17:17108606..17116613hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388008
hg198008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv893e212
Supporting Variantsessv9812763, essv9812764
Samples401022ML, 401154BR
Known GenesFLCN, PLD6
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)esv3582553
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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