A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760136



Internal ID10376444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:67576996..67717021hg38UCSC Ensembl
Innerchr10:69336754..69476779hg19UCSC Ensembl
Innerchr10:69006760..69146785hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38140026
hg19140026
hg18140026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018776, essv7018779, essv7018773, essv7018775, essv7018780, essv7018777, essv7018774, essv7018771, essv7018772, essv7018769, essv7018770
SamplesRW_0312, RW_0560, RW_0608, RW_0302, RW_0068, RW_0120, RW_0669, RW_0605, RW_0662, RW_0361, RW_0630
Known GenesCTNNA3
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)esv2760136
Frequency
Sample Size1109
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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