A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571327



Internal ID18699525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:101588540..101595291hg38UCSC Ensembl
Innerchr6:102036415..102043166hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg386752
hg196752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1821e212
Supporting Variantsessv9781073, essv9781079, essv9781075, essv9781069, essv9781062, essv9781072, essv9781076, essv9781067, essv9781085, essv9781060, essv9781058, essv9781082, essv9781074, essv9781080, essv9781064, essv9781081, essv9781083, essv9781061, essv9781059, essv9781063, essv9781078, essv9781084, essv9781068, essv9781065, essv9781071, essv9781070
Samples401706BJ, 400439IM, 400132HN, 401036WS, 400141CC, 400155CW, 400718PS, 401869BG, 400073HT, 400307HW, 401495NR, 400579HJ, 400113LD, 400198MD, 400060MC, 401930GD, 402054BD, 401443JK, 400248JO, 401112LG, 400943DV, 401898DS, 4000046CJ, 401143LK, 401215MJ, 401912HD
Known GenesGRIK2
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)esv3571327
Frequency
Sample Size873
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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