A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762368



Internal ID10375166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176050236..176076394hg38UCSC Ensembl
Innerchr3:175768024..175794182hg19UCSC Ensembl
Innerchr3:177250718..177276876hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3826159
hg1926159
hg1826159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009828
SamplesRW_0098
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)esv2762368
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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