A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763098



Internal ID10375778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:47595065..47601177hg38UCSC Ensembl
Innerchr15:47887262..47893374hg19UCSC Ensembl
Innerchr15:45674554..45680666hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg386113
hg196113
hg186113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023270
SamplesRW_0118
Known GenesSEMA6D
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)esv2763098
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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