A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019928



Internal ID9996985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55606556..55674842hg38UCSC Ensembl
Innerchr11:55374032..55442318hg19UCSC Ensembl
Innerchr11:55130608..55198894hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3868287
hg1968287
hg1868287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760216
Supporting Variants
SamplesRW_0310
Known GenesOR4C6, OR4P4, OR4S2
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)essv7019928
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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