A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762559



Internal ID10375357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:49759063..49849320hg38UCSC Ensembl
Innerchr2:49986201..50076458hg19UCSC Ensembl
Innerchr2:49839705..49929962hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3890258
hg1990258
hg1890258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013223
SamplesSW_0787
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)esv2762559
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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