A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997730



Internal ID10362635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18569684..18741033hg38UCSC Ensembl
Innerchr13:19143824..19315173hg19UCSC Ensembl
Innerchr13:18041824..18213173hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38171350
hg19171350
hg18171350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761143
Supporting Variants
SamplesSW_1045
Known GenesLINC00417
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)essv6997730
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer