A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764107



Internal ID10378143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:88678065..88703922hg38UCSC Ensembl
Innerchr8:89690294..89716151hg19UCSC Ensembl
Innerchr8:89759410..89785267hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3825858
hg1925858
hg1825858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993254, essv6993255
SamplesSW_1070, SW_0577
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)esv2764107
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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