A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995343



Internal ID10369355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4784704..4886454hg38UCSC Ensembl
Innerchr11:4805934..4907684hg19UCSC Ensembl
Innerchr11:4762510..4864260hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38101751
hg19101751
hg18101751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760633
Supporting Variants
SamplesSW_1302
Known GenesOR51F2, OR51S1, OR51T1, OR52R1
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)essv6995343
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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