A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575581



Internal ID18357093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100621211..100723578hg38UCSC Ensembl
Innerchr3:100340055..100442422hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38102368
hg19102368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1397e212
Supporting Variantsessv9767690, essv9767688
Samples401719RL, 400686BM
Known GenesGPR128, TFG
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)esv3575581
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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