A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763403



Internal ID10376083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:162557910..163017293hg38UCSC Ensembl
Innerchr4:163479062..163938445hg19UCSC Ensembl
Innerchr4:163698512..164157895hg18UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg38459384
hg19459384
hg18459384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030282
SamplesSW_1098
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)esv2763403
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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