A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578551



Internal ID18360063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248525286..248631976hg38UCSC Ensembl
Innerchr1:248688587..248795277hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38106691
hg19106691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166e212
Supporting Variantsessv9810832, essv9810644, essv9810743, essv9810677, essv9810899, essv9810621, essv9810854, essv9810877, essv9810610, essv9810910, essv9810721, essv9810710, essv9810688, essv9810921, essv9810699, essv9810666, essv9810755, essv9810599, essv9810766, essv9810777, essv9810732, essv9810843, essv9810821, essv9810810, essv9810866, essv9810632, essv9810655, essv9810799, essv9810788, essv9810577, essv9810588, essv9810566, essv9810888
Samples400269DA, 401474CE, 400287BP, 401986LC, 401673DM, 401487FW, 400906BR, 401966SR, 401918CA, 400641WJ, 400277LM, 401401BA, 400368SD, 400307HW, 400338SR, 401746WW, 401393JW, 400107MJ, 400282RA, 401714BM, 401357MH, 401119DK, 401930GD, 400603CJ, 400242TP, 401580CA, 401259LS, 400329HJ, 400376SJ, 400930MK, 401912HD, 401284NA, 401969DR
Known GenesOR2T10, OR2T11, OR2T29, OR2T34
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)esv3578551
Frequency
Sample Size873
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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