A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581407



Internal ID18709605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101718815..101733282hg38UCSC Ensembl
Innerchr14:102185152..102199619hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3814468
hg1914468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807197, essv9807196
Samples400579HJ, 401066MM
Known GenesLINC00239
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)esv3581407
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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