A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv276e212



Internal ID22783203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:98431450..98441539hg38UCSC Ensembl
chr10:100191207..100201296hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3810090
hg1910090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579089, esv3579090
Samples400599CP, 400572PJ, 401427CB, 401030GI, 400827MM, 400600DP, 401717LP, 400242TP, 401011PJ, 400422PN, 401514BA, 400728PB, 401365DJ, 400269DA
Known GenesHPS1
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)dgv276e212
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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