A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763493



Internal ID10376173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117491019..117505743hg38UCSC Ensembl
Innerchr5:116826714..116841438hg19UCSC Ensembl
Innerchr5:116854613..116869337hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3814725
hg1914725
hg1814725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031416
SamplesSW_1433
Known GenesLINC00992
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)esv2763493
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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