A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572230



Internal ID18353742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145631218..145812561hg38UCSC Ensembl
Innerchr1:145622531..145803834hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38181344
hg19181304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv95e212
Supporting Variantsessv9787767
Samples400122PL
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
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)esv3572230
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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