A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582501



Internal ID18364013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5496610..5516416hg38UCSC Ensembl
Innerchr17:5399930..5419736hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3819807
hg1919807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv884e212
Supporting Variantsessv9812390, essv9812392, essv9812388, essv9812391
Samples401385BB, 400730SH, 402019MC, 401607LL
Known GenesLOC728392, NLRP1
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)esv3582501
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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