A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577877



Internal ID18359389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55068894..55073692hg38UCSC Ensembl
Innerchr1:55534567..55539365hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384799
hg194799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9767145, essv9767156
Samples401190WC, 401011PJ
Known GenesUSP24
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)esv3577877
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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