A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760102



Internal ID10027465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18460416..18474019hg38UCSC Ensembl
Innerchr10:18749345..18762948hg19UCSC Ensembl
Innerchr10:18789351..18802954hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3813604
hg1913604
hg1813604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018198, essv7018202, essv7018201, essv7018203, essv7018199
SamplesRW_0176, RW_0184, RW_0208, RW_0028, RW_0581
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)esv2760102
Frequency
Sample Size1109
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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