A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760296



Internal ID10376604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:103116470..103143662hg38UCSC Ensembl
Innerchr13:103768820..103796012hg19UCSC Ensembl
Innerchr13:102566821..102594013hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3827193
hg1927193
hg1827193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021813, essv7021814
SamplesRW_0221, RW_0590
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)esv2760296
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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