A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv166e212



Internal ID20148622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248524920..248664922hg38UCSC Ensembl
chr1:248688221..248828223hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38140003
hg19140003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578565, esv3578551, esv3578564, esv3578563, esv3578561, esv3578553
Samples400269DA, 401474CE, 400287BP, 401420PJ, 401986LC, 401673DM, 401487FW, 400906BR, 401966SR, 401918CA, 401820SD, 400641WJ, 400277LM, 400627CC, 401263HS, 401401BA, 401364NA, 400368SD, 400307HW, 400338SR, 401746WW, 401393JW, 400107MJ, 400282RA, 401397WN, 401714BM, 401357MH, 401119DK, 401930GD, 401087SF, 400603CJ, 400242TP, 401580CA, 401259LS, 400329HJ, 401315HK, 400376SJ, 400930MK, 400811SK, 401372RR, 401912HD, 401284NA, 401969DR
Known GenesOR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
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)dgv166e212
Frequency
Sample Size873
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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