A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020293



Internal ID9999591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:129746052..129822685hg38UCSC Ensembl
Innerchr11:129615947..129692580hg19UCSC Ensembl
Innerchr11:129121157..129197790hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3876634
hg1976634
hg1876634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760198
Supporting Variants
SamplesRW_0531
Known GenesTMEM45B
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)essv7020293
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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