A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577822



Internal ID18706020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40770274..40789804hg38UCSC Ensembl
Innerchr1:41235946..41255476hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3819531
hg1919531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835543, essv9835554, essv9835421, essv9835576, essv9835532, essv9835465, essv9835488, essv9835443, essv9835510, essv9835432, essv9835499, essv9835565, essv9835476, essv9835454, essv9835521
Samples400316SL, 400926LJ, 400641WJ, 400882DD, 400203NA, 400582WS, 401477ST, 400064WJ, 401879HJ, 401608GE, 401786WD, 401858TP, 401100SJ, 402042BJ, 400532MH
Known GenesKCNQ4, NFYC
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)esv3577822
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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