A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567926



Internal ID18696124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:24634409..24639255hg38UCSC Ensembl
Innerchr20:24615045..24619891hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg384847
hg194847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9819351, essv9819343, essv9819354, essv9819342, essv9819324, essv9819332, essv9819356, essv9819335, essv9819350, essv9819338, essv9819323, essv9819331, essv9819341, essv9819358, essv9819348, essv9819346, essv9819339, essv9819337, essv9819345, essv9819357, essv9819347, essv9819327, essv9819326, essv9819328, essv9819329, essv9819340, essv9819336, essv9819325, essv9819353, essv9819349, essv9819352, essv9819334, essv9819330
Samples401474CE, 400701MM, 400424LN, 401074CM, 400622SJ, 401036WS, 400625FT, 401949MN, 401030GI, 400493KH, 400620MT, 401906DT, 401281BP, 401926MR, 401832MC, 401746WW, 401192MJ, 400007RG, 400070PC, 401618HR, 401771OS, 401630MK, 401506LK, 401075MN, 401812HG, 401711WS, 401914PR, 401391PJ, 401844ZD, 401295HB, 400271SR, 400291VJ, 401066MM
Known GenesSYNDIG1
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)esv3567926
Frequency
Sample Size873
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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