A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762889



Internal ID10030239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:606294..653614hg38UCSC Ensembl
Innerchr11:606294..653614hg19UCSC Ensembl
Innerchr11:596294..643614hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3847321
hg1947321
hg1847321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019007
SamplesRW_0663
Known GenesCDHR5, DEAF1, DRD4, IRF7, PHRF1, SCT
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)esv2762889
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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