A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9767691



Internal ID18310216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100621211..100723652hg38UCSC Ensembl
Innerchr3:100340055..100442496hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38102442
hg19102442
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575589
Supporting Variants
Samples400889CM
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
CommentsNumber of probes=107
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9767691
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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