A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578428



Internal ID18359940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215682640..215688537hg38UCSC Ensembl
Innerchr1:215855982..215861879hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385898
hg195898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805867, essv9805933, essv9805922, essv9805889, essv9805900, essv9805911, essv9805878
Samples401636WR, 401210PB, 402016HZ, 400802DP, 401084BD, 401884WJ, 401838EN
Known GenesUSH2A
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)esv3578428
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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