A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761685



Internal ID10374483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:79369323..79378211hg38UCSC Ensembl
Innerchr11:79080367..79089255hg19UCSC Ensembl
Innerchr11:78758015..78766903hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg388889
hg198889
hg188889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996102
SamplesSW_1152
Known GenesTENM4
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)esv2761685
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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