A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763487



Internal ID10030837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115887289..116107198hg38UCSC Ensembl
Innerchr5:115222986..115442895hg19UCSC Ensembl
Innerchr5:115250885..115470794hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38219910
hg19219910
hg18219910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031409
SamplesSW_0641
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
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)esv2763487
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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