A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026939



Internal ID9990011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36448479..36615303hg38UCSC Ensembl
Innerchr22:36844526..37011350hg19UCSC Ensembl
Innerchr22:35174472..35341296hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38166825
hg19166825
hg18166825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760722
Supporting Variants
SamplesRW_0136
Known GenesCACNG2, EIF3D, FOXRED2, TXN2
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)essv7026939
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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