A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012712



Internal ID10339109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:20437092..20448700hg38UCSC Ensembl
Innerchr5:20437201..20448809hg19UCSC Ensembl
Innerchr5:20472958..20484566hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3811609
hg1911609
hg1811609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760930
Supporting Variants
SamplesRW_0192
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)essv7012712
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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