A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031686



Internal ID10357786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:167394898..167406870hg38UCSC Ensembl
Innerchr5:166821903..166833875hg19UCSC Ensembl
Innerchr5:166754481..166766453hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3811973
hg1911973
hg1811973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763517
Supporting Variants
SamplesSW_0625
Known GenesTENM2
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)essv7031686
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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