A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1516e212



Internal ID22784443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98591004..98603046hg38UCSC Ensembl
chr4:99512155..99524197hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3812043
hg1912043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569623, esv3569624, esv3569625, esv3569626
Samples401292ER, 401079HJ, 401457WK, 400292LP, 400615RI, 401210PB, 401942MP, 401075MN, 400274TL, 400769SL, 400012CJ, 400255CD
Known GenesTSPAN5
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)dgv1516e212
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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