A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764114



Internal ID10378150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72320053..72410867hg38UCSC Ensembl
Innerchr8:73232288..73323102hg19UCSC Ensembl
Innerchr8:73394842..73485656hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3890815
hg1990815
hg1890815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993205, essv6993204
SamplesSW_1472, SW_0594
Known Genes
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)esv2764114
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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