A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762224



Internal ID10375022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228656037..228731909hg38UCSC Ensembl
Innerchr1:228791784..228867656hg19UCSC Ensembl
Innerchr1:226858407..226934279hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3875873
hg1975873
hg1875873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007001
SamplesRW_0589
Known GenesRHOU
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)esv2762224
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