A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763103



Internal ID10375783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:57489379..57507567hg38UCSC Ensembl
Innerchr15:57781577..57799765hg19UCSC Ensembl
Innerchr15:55568869..55587057hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3818189
hg1918189
hg1818189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023338
SamplesRW_0246
Known GenesCGNL1
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)esv2763103
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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