A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763872



Internal ID10031222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17342373..17358160hg38UCSC Ensembl
Innerchr5:17342482..17358269hg19UCSC Ensembl
Innerchr5:17395482..17411269hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3815788
hg1915788
hg1815788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030900, essv7030899, essv7030902
SamplesSW_1290, SW_0120, SW_0836
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)esv2763872
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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