A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760867



Internal ID10377174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:132512568..132731597hg38UCSC Ensembl
Innerchr4:133433723..133652752hg19UCSC Ensembl
Innerchr4:133653173..133872202hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38219030
hg19219030
hg18219030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011791, essv7011790
SamplesRW_0603, RW_0121
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)esv2760867
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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