A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763298



Internal ID10375978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40872993..40910828hg38UCSC Ensembl
Innerchr1:41338665..41376500hg19UCSC Ensembl
Innerchr1:41111252..41149087hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3837836
hg1937836
hg1837836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027723, essv7027701, essv7027690, essv7027679, essv7027734, essv7027712
SamplesSW_0884, SW_0890, SW_1079, SW_0076, SW_0829, SW_1318
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)esv2763298
Frequency
Sample Size1109
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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