A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv576e212



Internal ID20149032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96735648..96748486hg38UCSC Ensembl
chr13:97387902..97400740hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3812839
hg1912839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580851, esv3580853
Samples401146US, 400132HN, 400106PC, 402051AF, 401295HB, 401858TP, 402074RR, 401873BK, 401426WD, 400022WA
Known GenesHS6ST3
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)dgv576e212
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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