A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018201



Internal ID9991959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18460416..18471548hg38UCSC Ensembl
Innerchr10:18749345..18760477hg19UCSC Ensembl
Innerchr10:18789351..18800483hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3811133
hg1911133
hg1811133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760102
Supporting Variants
SamplesRW_0184
Known GenesCACNB2
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)essv7018201
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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