A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761684



Internal ID10374482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:79229649..79267468hg38UCSC Ensembl
Innerchr11:78940694..78978513hg19UCSC Ensembl
Innerchr11:78618342..78656161hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3837820
hg1937820
hg1837820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996101
SamplesSW_0581
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)esv2761684
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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