A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1532e212



Internal ID22784459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139309735..139318423hg38UCSC Ensembl
chr4:140230889..140239577hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg388689
hg198689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569725, esv3569727, esv3569726
Samples400927BD, 401986LC, 401146US, 401261HD, 40031BA, 401427CB, 400360SM, 400298ME, 400749VW, 400733SW, 400791GC, 401326LI, 400800MW, 400888MS, 401361GG, 400238BB
Known GenesNAA15
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)dgv1532e212
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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