A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760208



Internal ID10027571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:93439507..93533428hg38UCSC Ensembl
Innerchr11:93172673..93266594hg19UCSC Ensembl
Innerchr11:92812321..92906242hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3893922
hg1993922
hg1893922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020174, essv7020172, essv7020173
SamplesRW_0611, RW_0324, RW_0137
Known GenesSMCO4
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)esv2760208
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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