A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9767762



Internal ID18667632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:110748445..110845464hg38UCSC Ensembl
Innerchr3:110467292..110564311hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3897020
hg1997020
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575593
Supporting Variants
Samples401221LD
Known Genes
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=53
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9767762
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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