A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763578



Internal ID10376258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86119012..86156602hg38UCSC Ensembl
Innerchr1:86584695..86622285hg19UCSC Ensembl
Innerchr1:86357283..86394873hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3837591
hg1937591
hg1837591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032346
SamplesSW_0103
Known GenesCOL24A1
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)esv2763578
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