A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760199



Internal ID10027562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:86801270..86820076hg38UCSC Ensembl
Innerchr11:86512312..86531118hg19UCSC Ensembl
Innerchr11:86189960..86208766hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3818807
hg1918807
hg1818807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020154, essv7020153, essv7020152
SamplesRW_0593, RW_0534, RW_0170
Known GenesPRSS23
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)esv2760199
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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