A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581068



Internal ID18709266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22623432..22630269hg38UCSC Ensembl
Innerchr14:23092335..23099174hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg386838
hg196840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv614e212
Supporting Variantsessv9804962, essv9804963
Samples401029SD, 400942HR
Known Genes
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)esv3581068
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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