A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9787743



Internal ID18323667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145837994..145846568hg38UCSC Ensembl
Innerchr1:145588500..145597116hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg388575
hg198617
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3572008
Supporting Variants
Samples401302LJ
Known GenesLOC100288142, NBPF10, NUDT17, POLR3C
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9787743
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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