A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763375



Internal ID10376055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:89446527..89563743hg38UCSC Ensembl
Innerchr4:90367678..90484894hg19UCSC Ensembl
Innerchr4:90586701..90703917hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38117217
hg19117217
hg18117217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029747
SamplesSW_0255
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)esv2763375
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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