A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580277



Internal ID18708475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54971551..54978130hg38UCSC Ensembl
Innerchr12:55365335..55371914hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg386580
hg196580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801393, essv9801392, essv9801395, essv9801394
Samples400876OG, 400773GS, 400082SD, 400171BJ
Known GenesTESPA1
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)esv3580277
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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