A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031789



Internal ID10009879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180951710..181059022hg38UCSC Ensembl
Innerchr5:180378710..180486022hg19UCSC Ensembl
Innerchr5:180311316..180418628hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38107313
hg19107313
hg18107313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763931
Supporting Variants
SamplesSW_0525
Known GenesBTNL3, BTNL9, MIR8089
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)essv7031789
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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