A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572902



Internal ID18701100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94385798..94387084hg38UCSC Ensembl
Innerchr8:95398026..95399312hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2104e212
Supporting Variantsessv9789397, essv9789418, essv9789425, essv9789394, essv9789392, essv9789407, essv9789415, essv9789419, essv9789399, essv9789410, essv9789406, essv9789412, essv9789396, essv9789395, essv9789417, essv9789414, essv9789401, essv9789398, essv9789409, essv9789403, essv9789393, essv9789416, essv9789424, essv9789408, essv9789421, essv9789405, essv9789413, essv9789420, essv9789404, essv9789402
Samples400927BD, 401005BL, 400821FE, 401299ST, 400191MP, 400245SJ, 401136LB, 400482MD, 401550SP, 401791FG, 401027KW, 400838AM, 401519SA, 401942MP, 400686BM, 401795SP, 401112LG, 401359HF, 401361GG, 401295HB, 400069CN, 401177SL, 400508RD, 401628GC, 400213DB, 400300SD, 400209BS, 400138LA, 401497PR, 401482CB
Known GenesRAD54B
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)esv3572902
Frequency
Sample Size873
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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