A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009435



Internal ID9986660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132162378..132364702hg38UCSC Ensembl
Innerchr3:131881222..132083546hg19UCSC Ensembl
Innerchr3:133363912..133566236hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38202325
hg19202325
hg18202325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762346
Supporting Variants
SamplesRW_0046
Known GenesACPP
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)essv7009435
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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