A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568188



Internal ID18696386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:37478338..37482174hg38UCSC Ensembl
Innerchr21:38850640..38854476hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383837
hg193837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1271e212
Supporting Variantsessv9820345, essv9820354, essv9820346, essv9820365, essv9820353, essv9820369, essv9820386, essv9820392, essv9820363, essv9820389, essv9820385, essv9820368, essv9820347, essv9820381, essv9820380, essv9820352, essv9820374, essv9820394, essv9820373, essv9820364, essv9820390, essv9820370, essv9820387, essv9820372, essv9820356, essv9820379, essv9820348, essv9820349, essv9820367, essv9820351, essv9820371, essv9820360, essv9820375, essv9820376, essv9820378, essv9820391, essv9820383, essv9820358, essv9820350, essv9820384, essv9820359, essv9820361, essv9820357, essv9820393, essv9820382, essv9820362
Samples401191MI, 400599CP, 401962BK, 401330RR, 401299ST, 400995MS, 401491BB, 401674DD, 401368WR, 401402EN, 401030GI, 400245SJ, 400360SM, 400337HG, 400773GS, 400203NA, 401165SB, 400292LP, 401155ML, 401831TW, 401353BC, 400002HK, 400983PV, 400352CA, 401085LA, 400870KC, 401499JR, 400960TN, 400381CA, 400123WN, 400249BC, 400474GF, 400274TL, 400430KV, 400818BL, 401428LD, 400128MJ, 402048WB, 401215MJ, 402023EC, 400833BB, 400150SS, 400668TD, 401246HH, 400704LC, 400801HS
Known GenesDYRK1A
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)esv3568188
Frequency
Sample Size873
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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