A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579384



Internal ID18360896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:15977563..15983273hg38UCSC Ensembl
Innerchr11:15999109..16004819hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg385711
hg195711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv326e212
Supporting Variantsessv9796253, essv9796248, essv9796259, essv9796263, essv9796243, essv9796260, essv9796268, essv9796261, essv9796246, essv9796249, essv9796270, essv9796252, essv9796239, essv9796274, essv9796240, essv9796267, essv9796272, essv9796262, essv9796242, essv9796269, essv9796273, essv9796256, essv9796265, essv9796258, essv9796271, essv9796254, essv9796264, essv9796250, essv9796245, essv9796247, essv9796257, essv9796241, essv9796251
Samples400880TM, 400572PJ, 400336BG, 401927SK, 401368WR, 401556KR, 402016HZ, 401926MR, 402028BD, 401401BA, 400338SR, 401495NR, 401746WW, 401801LA, 401791FG, 400533BB, 400783MJ, 400660GK, 401859GS, 400844GP, 401259LS, 400378HL, 401914PR, 400483DP, 400053LE, 400069CN, 401611CD, 401894PD, 401149VA, 401100SJ, 400271SR, 400315DA, 401177SL
Known GenesSOX6
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)esv3579384
Frequency
Sample Size873
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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