A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9799541



Internal ID18336431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1116916..1119370hg38UCSC Ensembl
Innerchr12:1226082..1228536hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382455
hg192455
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580022
Supporting Variants
Samples401693RC
Known GenesERC1
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
CommentsNumber of probes=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9799541
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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