A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018776



Internal ID10350088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:67586608..67697868hg38UCSC Ensembl
Innerchr10:69346366..69457626hg19UCSC Ensembl
Innerchr10:69016372..69127632hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38111261
hg19111261
hg18111261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760136
Supporting Variants
SamplesRW_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)essv7018776
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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