A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762947



Internal ID10030297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164766955..164889937hg38UCSC Ensembl
Innerchr2:165623465..165746447hg19UCSC Ensembl
Innerchr2:165331711..165454693hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38122983
hg19122983
hg18122983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020266
SamplesSW_0626
Known GenesCOBLL1
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)esv2762947
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