A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568743



Internal ID18696941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52999119..53004915hg38UCSC Ensembl
Innerchr3:53033135..53038931hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg385797
hg195797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1375e212
Supporting Variantsessv9767026, essv9767039, essv9767040, essv9767030, essv9767031, essv9767038, essv9767041, essv9767027, essv9767032, essv9767028, essv9767042, essv9767033, essv9767037, essv9767035, essv9767029, essv9767043, essv9767036
Samples401706BJ, 401366WD, 400908PJ, 401005BL, 400105BB, 401368WR, 400356MC, 401550SP, 400374LB, 400113LD, 400955BE, 401307VR, 400274TL, 400451kh, 401661HD, 400312CR, 400719TM
Known GenesSFMBT1
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)esv3568743
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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