A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582470



Internal ID18710668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1494346..1500654hg38UCSC Ensembl
Innerchr17:1397640..1403948hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386309
hg196309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv877e212
Supporting Variantsessv9812257, essv9812258
Samples401330RR, 401434VN
Known GenesINPP5K
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)esv3582470
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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