A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760890



Internal ID10377197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:124352301..124545776hg38UCSC Ensembl
Innerchr4:125273456..125466931hg19UCSC Ensembl
Innerchr4:125492906..125686381hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38193476
hg19193476
hg18193476
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011782, essv7011783, essv7011781
SamplesRW_0096, RW_0558, RW_0613
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)esv2760890
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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