A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580199



Internal ID18361711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27493218..27498337hg38UCSC Ensembl
Innerchr12:27646151..27651270hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg385120
hg195120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv469e212
Supporting Variantsessv9800958, essv9800956, essv9800957
Samples400308SP, 400013TA, 400079AP
Known GenesSMCO2
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)esv3580199
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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