A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760883



Internal ID10028245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101160200..101166993hg38UCSC Ensembl
Innerchr4:102081357..102088150hg19UCSC Ensembl
Innerchr4:102300380..102307173hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg386794
hg196794
hg186794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011424, essv7011423, essv7011421
SamplesRW_0129, RW_0105, RW_0047
Known GenesPPP3CA
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)esv2760883
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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