A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv42e212



Internal ID20148498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61639094..61654745hg38UCSC Ensembl
chr1:62104766..62120417hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3815652
hg1915652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577892, esv3577895, esv3577893
Samples401330RR, 401321CE, 401899MB, 400449PK, 400553PP, 401030GI, 401582GG, 400486LS, 401908YM, 400134WK, 400653GP, 401791FG, 401589HP, 400082SD, 402022SM, 401428LD, 400164SS, 400890IT, 401066MM, 400269DA
Known GenesMGC34796
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)dgv42e212
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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