A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763489



Internal ID10376169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116357469..116397630hg38UCSC Ensembl
Innerchr5:115693166..115733327hg19UCSC Ensembl
Innerchr5:115721065..115761226hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3840162
hg1940162
hg1840162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031410
SamplesSW_0015
Known GenesLOC101927190
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)esv2763489
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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