A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996076



Internal ID10005840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55693207..55736880hg38UCSC Ensembl
Innerchr11:55460683..55504356hg19UCSC Ensembl
Innerchr11:55217259..55260932hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3843674
hg1943674
hg1843674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760311
Supporting Variants
SamplesSW_0049
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)essv6996076
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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