A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021795



Internal ID10346709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:86353362..86427109hg38UCSC Ensembl
Innerchr13:87005617..87079364hg19UCSC Ensembl
Innerchr13:85803618..85877365hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3873748
hg1973748
hg1873748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763045
Supporting Variants
SamplesRW_0543
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)essv7021795
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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