A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762452



Internal ID10375250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98287001..98291560hg38UCSC Ensembl
Innerchr4:99208152..99212711hg19UCSC Ensembl
Innerchr4:99427175..99431734hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg384560
hg194560
hg184560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011418
SamplesRW_0117
Known GenesRAP1GDS1
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)esv2762452
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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