A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576919



Internal ID18358431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:65837678..66804698hg38UCSC Ensembl
InnerchrX:65057520..66024540hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38967021
hg19967021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9826091
Samples401021SC
Known GenesEDA2R, HEPH, MIR223, VSIG4
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)esv3576919
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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