A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3578551

Internal ID18360063
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248525286..248631976hg38UCSC Ensembl
Innerchr1:248688587..248795277hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166e212
Supporting Variantsessv9810866, essv9810843, essv9810799, essv9810910, essv9810599, essv9810766, essv9810688, essv9810644, essv9810721, essv9810666, essv9810710, essv9810699, essv9810821, essv9810755, essv9810677, essv9810877, essv9810577, essv9810732, essv9810921, essv9810610, essv9810743, essv9810777, essv9810655, essv9810621, essv9810899, essv9810788, essv9810588, essv9810566, essv9810854, essv9810632, essv9810810, essv9810832, essv9810888
Samples401580CA, 401673DM, 400107MJ, 401912HD, 400641WJ, 401966SR, 401393JW, 400277LM, 400269DA, 400603CJ, 401401BA, 401986LC, 400376SJ, 400242TP, 400930MK, 401487FW, 401474CE, 400368SD, 401930GD, 401714BM, 400307HW, 401259LS, 400282RA, 400329HJ, 401918CA, 401357MH, 400906BR, 401969DR, 400287BP, 401746WW, 401284NA, 400338SR, 401119DK
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
Pubmed ID25503493
Accession Number(s)esv3578551
Sample Size873
Observed Gain0
Observed Loss33
Observed Complex0

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