A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579162



Internal ID18707360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122584580..122597125hg38UCSC Ensembl
Innerchr10:124344096..124356641hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3812546
hg1912546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv291e212
Supporting Variantsessv9795118, essv9795114, essv9795116, essv9795112, essv9795115, essv9795113
Samples400899NK, 400077EB, 400493KH, 400718PS, 400032RC, 401847RK
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)esv3579162
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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