A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760193



Internal ID10027556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55278379..55354230hg38UCSC Ensembl
Innerchr11:55045855..55121706hg19UCSC Ensembl
Innerchr11:54802431..54878282hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3875852
hg1975852
hg1875852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019894, essv7019892, essv7019893
SamplesRW_0162, RW_0263, RW_0513
Known GenesOR4A16, TRIM51HP
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)esv2760193
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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