A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9792133



Internal ID18677750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155211057..155241863hg38UCSC Ensembl
Innerchr1:155180848..155211654hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3830807
hg1930807
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3574564
Supporting Variants
Samples401504RJ
Known GenesGBA, GBAP1, MTX1
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
CommentsNumber of probes=48
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9792133
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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