A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763044



Internal ID10375724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83323847..83374355hg38UCSC Ensembl
Innerchr13:83897982..83948490hg19UCSC Ensembl
Innerchr13:82795983..82846491hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3850509
hg1950509
hg1850509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021786
SamplesRW_0194
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)esv2763044
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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