A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763288



Internal ID10375968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:98189826..98228409hg38UCSC Ensembl
Innerchr3:97908670..97947253hg19UCSC Ensembl
Innerchr3:99391360..99429943hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3838584
hg1938584
hg1838584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027559
SamplesSW_0295
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)esv2763288
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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