A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761192



Internal ID10028554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52365749..52700691hg38UCSC Ensembl
Innerchr8:53278309..53613251hg19UCSC Ensembl
Innerchr8:53440862..53775804hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38334943
hg19334943
hg18334943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016787, essv7016790, essv7016791, essv7016788, essv7016792
SamplesRW_0183, RW_0528, RW_0228, RW_0625, RW_0215
Known GenesFAM150A, RB1CC1, ST18
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)esv2761192
Frequency
Sample Size1109
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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