A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760197



Internal ID10376505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:76431975..76442824hg38UCSC Ensembl
Innerchr11:76143019..76153868hg19UCSC Ensembl
Innerchr11:75820667..75831516hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3810850
hg1910850
hg1810850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020086, essv7020085
SamplesRW_0104, RW_0111
Known Genes
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)esv2760197
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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