A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575587



Internal ID18357099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100607666..100723653hg38UCSC Ensembl
Innerchr3:100326510..100442497hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38115988
hg19115988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1397e212
Supporting Variantsessv9767686
Samples400385LJ
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)esv3575587
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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