A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764065



Internal ID10031415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52452089..52975372hg38UCSC Ensembl
Innerchr8:53364649..53887932hg19UCSC Ensembl
Innerchr8:53527202..54050485hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38523284
hg19523284
hg18523284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993173, essv6993172, essv6993174
SamplesSW_0804, SW_1245, SW_0029
Known GenesFAM150A, NPBWR1, RB1CC1
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)esv2764065
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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