A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579154



Internal ID18707352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122582005..122597392hg38UCSC Ensembl
Innerchr10:124341521..124356908hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3815388
hg1915388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv291e212
Supporting Variantsessv9795017, essv9795016, essv9795015
Samples401652HL, 401606CG, 400171BJ
Known GenesDMBT1
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)esv3579154
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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