A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011421



Internal ID9986686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101160200..101163458hg38UCSC Ensembl
Innerchr4:102081357..102084615hg19UCSC Ensembl
Innerchr4:102300380..102303638hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg383259
hg193259
hg183259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760883
Supporting Variants
SamplesRW_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)essv7011421
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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