A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760776



Internal ID10028138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:41872696..42174077hg38UCSC Ensembl
Innerchr3:41914188..42215569hg19UCSC Ensembl
Innerchr3:41889192..42190573hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38301382
hg19301382
hg18301382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008981, essv7008979, essv7008980
SamplesRW_0644, RW_0500, RW_0038
Known GenesTRAK1, ULK4
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)esv2760776
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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