A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574675



Internal ID18702873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155219459..155241863hg38UCSC Ensembl
Innerchr1:155189250..155211654hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3822405
hg1922405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv107e212
Supporting Variantsessv9792177, essv9792166
Samples401277RA, 400704LC
Known GenesGBA, GBAP1
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)esv3574675
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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