A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022891



Internal ID10344217
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 StatusS
Merged Variantsesv2760370
Supporting Variants
SamplesRW_0329
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)essv7022891
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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