A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv535e212



Internal ID20148991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19844555..19875103hg38UCSC Ensembl
chr13:20418695..20449243hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3830549
hg1930549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582149, esv3582171, esv3582160, esv3582115, esv3582104
Samples401804FG, 401962BK, 400246MG, 401183HP, 402056KD, 400007RG, 400661AD, 400235MP
Known GenesZMYM5
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)dgv535e212
Frequency
Sample Size873
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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