A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763396



Internal ID10376076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:147595618..147614485hg38UCSC Ensembl
Innerchr4:148516769..148535636hg19UCSC Ensembl
Innerchr4:148736219..148755086hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3818868
hg1918868
hg1818868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030176
SamplesSW_1437
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)esv2763396
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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