A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581290



Internal ID18709488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73554052..73583505hg38UCSC Ensembl
Innerchr14:74020756..74050209hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3829454
hg1929454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv662e212
Supporting Variantsessv9806836, essv9806832, essv9806834, essv9806837, essv9806835
Samples401019MP, 401860TJ, 401997HB, 401084TD, 401728WK
Known GenesACOT2, HEATR4
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)esv3581290
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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