A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv166e212

Internal ID20148622
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248524920..248664922hg38UCSC Ensembl
chr1:248688221..248828223hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578564, esv3578553, esv3578563, esv3578551, esv3578565, esv3578561
Samples401580CA, 401673DM, 400107MJ, 401912HD, 400641WJ, 401966SR, 401393JW, 400277LM, 400269DA, 400603CJ, 401401BA, 401986LC, 400376SJ, 401397WN, 400242TP, 400930MK, 401487FW, 401474CE, 400368SD, 401930GD, 401714BM, 400307HW, 400811SK, 401420PJ, 401259LS, 400282RA, 401315HK, 400329HJ, 401918CA, 401820SD, 401357MH, 400627CC, 400906BR, 401372RR, 401969DR, 400287BP, 401746WW, 401284NA, 401263HS, 400338SR, 401119DK, 401087SF, 401364NA
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
Pubmed ID25503493
Accession Number(s)dgv166e212
Sample Size873
Observed Gain0
Observed Loss43
Observed Complex0

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