A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569726



Internal ID18697924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:139309735..139317206hg38UCSC Ensembl
Innerchr4:140230889..140238360hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg387472
hg197472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1532e212
Supporting Variantsessv9772687, essv9772690, essv9772688, essv9772692, essv9772691
Samples400927BD, 401326LI, 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)esv3569726
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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