A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763324



Internal ID10030674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:164978854..165073365hg38UCSC Ensembl
Innerchr3:164696642..164791153hg19UCSC Ensembl
Innerchr3:166179336..166273847hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3894512
hg1994512
hg1894512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028152
SamplesSW_1074
Known GenesSI
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)esv2763324
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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