A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011686



Internal ID10346527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:115585372..115623875hg38UCSC Ensembl
Innerchr4:116506528..116545031hg19UCSC Ensembl
Innerchr4:116725977..116764480hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3838504
hg1938504
hg1838504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762458
Supporting Variants
SamplesRW_0538
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)essv7011686
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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