A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760370



Internal ID10376678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23858893..24069723hg38UCSC Ensembl
Innerchr15:24104040..24314870hg19UCSC Ensembl
Innerchr15:21655133..21865963hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38210831
hg19210831
hg18210831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022892, essv7022893, essv7022891
SamplesRW_0329, RW_0185, RW_0128
Known Genes
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)esv2760370
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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