A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580604



Internal ID18708802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:35569426..35573872hg38UCSC Ensembl
Innerchr13:36143563..36148009hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384447
hg194447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9803078, essv9803085, essv9803096, essv9803095, essv9803097, essv9803092, essv9803094, essv9803087, essv9803079, essv9803083, essv9803073, essv9803071, essv9803101, essv9803104, essv9803102, essv9803072, essv9803080, essv9803090, essv9803086, essv9803084, essv9803076, essv9803082, essv9803091, essv9803081, essv9803099, essv9803098, essv9803074, essv9803103, essv9803093, essv9803075
Samples400701MM, 401465TB, 400105BB, 400132HN, 401673DM, 401183HP, 401151RJ, 401820SD, 400643LD, 401402EN, 401022ML, 401975VD, 400743LS, 400374LB, 401873BK, 400007RG, 401834CB, 401513KC, 400686BM, 401011PJ, 400258BC, 401112LG, 401922MW, 400728PB, 401203MP, 401438HT, 400312CR, 401143LK, 401135CS, 400291VJ
Known GenesMIR548F5, NBEA
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)esv3580604
Frequency
Sample Size873
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer