A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9787756



Internal ID18322052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145642989..145812561hg38UCSC Ensembl
Innerchr1:145622531..145792051hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38169573
hg19169521
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3572119
Supporting Variants
Samples401258PC
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
CommentsNumber of probes=142
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9787756
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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