A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1271e212



Internal ID22784198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37477953..37482198hg38UCSC Ensembl
chr21:38850255..38854500hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg384246
hg194246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568189, esv3568188, esv3568190
Samples401191MI, 400599CP, 401962BK, 401330RR, 401299ST, 400995MS, 401491BB, 401674DD, 401368WR, 401402EN, 401030GI, 400245SJ, 400360SM, 400337HG, 400773GS, 400203NA, 401165SB, 400292LP, 401155ML, 401831TW, 401353BC, 400002HK, 400983PV, 400352CA, 401331LJ, 401085LA, 400870KC, 401499JR, 400960TN, 400381CA, 400123WN, 400249BC, 400474GF, 400274TL, 400430KV, 400818BL, 401428LD, 400128MJ, 402048WB, 401215MJ, 402023EC, 400833BB, 400150SS, 401480PG, 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)dgv1271e212
Frequency
Sample Size873
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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