A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1545e212



Internal ID20150001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168567471..168575876hg38UCSC Ensembl
chr4:169488622..169497027hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg388406
hg198406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569819, esv3569821
Samples401125LM, 400834SS, 401942MP, 401543DC, 400261RN, 401262RR, 401517PR, 401393JW, 400093BL, 400821FE, 401927SK, 401005BL, 401210PB, 400515ZG, 400893ZE, 401861GG, 400508RD, 401780BB, 401251WN, 401817MC, 400542EG, 400838AM, 401956DQ, 400977SC, 401287CF, 400298ME, 400127MD, 400265LK, 400201PK
Known GenesPALLD
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)dgv1545e212
Frequency
Sample Size873
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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