A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021219



Internal ID10338971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18452809..18618539hg38UCSC Ensembl
Innerchr13:19026949..19192679hg19UCSC Ensembl
Innerchr13:17924949..18090679hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38165731
hg19165731
hg18165731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760286
Supporting Variants
SamplesRW_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)essv7021219
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