A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008701



Internal ID9989837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233741958..233749337hg38UCSC Ensembl
Innerchr2:234650604..234657983hg19UCSC Ensembl
Innerchr2:234315343..234322722hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387380
hg197380
hg187380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760613
Supporting Variants
SamplesRW_0129
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)essv7008701
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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