A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763366



Internal ID10376046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68725501..68795709hg38UCSC Ensembl
Innerchr4:69590555..69661427hg19UCSC Ensembl
Innerchr4:69617078..69696016hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3870209
hg1970873
hg1878939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029474
SamplesSW_0638
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)esv2763366
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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