A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763509



Internal ID10030859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150215547..150245974hg38UCSC Ensembl
Innerchr5:149595110..149625537hg19UCSC Ensembl
Innerchr5:149575303..149605730hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3830428
hg1930428
hg1830428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031527
SamplesSW_0339
Known GenesCAMK2A
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2763509
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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