A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019413



Internal ID10343623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:9827964..9933002hg38UCSC Ensembl
Innerchr11:9849511..9954549hg19UCSC Ensembl
Innerchr11:9806087..9911125hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38105039
hg19105039
hg18105039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762895
Supporting Variants
SamplesRW_0309
Known GenesSBF2
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)essv7019413
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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