A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760633



Internal ID10376940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4782750..4889154hg38UCSC Ensembl
Innerchr11:4803980..4910384hg19UCSC Ensembl
Innerchr11:4760556..4866960hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38106405
hg19106405
hg18106405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995342, essv6995343
SamplesSW_1302, SW_1053
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)esv2760633
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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