A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760286



Internal ID10376594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18452809..18638271hg38UCSC Ensembl
Innerchr13:19026949..19212411hg19UCSC Ensembl
Innerchr13:17924949..18110411hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38185463
hg19185463
hg18185463
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021220, essv7021219, essv7021221
SamplesRW_0069, RW_0112, RW_0190
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)esv2760286
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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