A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763397



Internal ID10376077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:148486511..148793284hg38UCSC Ensembl
Innerchr4:149407663..149714436hg19UCSC Ensembl
Innerchr4:149627113..149933886hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38306774
hg19306774
hg18306774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030177
SamplesSW_0241
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)esv2763397
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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