A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763333



Internal ID10376013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193901188..193970681hg38UCSC Ensembl
Innerchr3:193618977..193688470hg19UCSC Ensembl
Innerchr3:195101671..195171164hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3869494
hg1969494
hg1869494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028341
SamplesSW_1217
Known GenesLOC647323
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)esv2763333
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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