A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760613



Internal ID10027975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233741958..233753617hg38UCSC Ensembl
Innerchr2:234650604..234662263hg19UCSC Ensembl
Innerchr2:234315343..234327002hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811660
hg1911660
hg1811660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008702, essv7008701
SamplesRW_0129, RW_0154
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)esv2760613
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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