A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760473



Internal ID10027836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:27806124..27991502hg38UCSC Ensembl
Innerchr18:25386088..25571466hg19UCSC Ensembl
Innerchr18:23640086..23825464hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38185379
hg19185379
hg18185379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024917, essv7024916
SamplesRW_0643, RW_0169
Known GenesCDH2
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)esv2760473
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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