A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003312



Internal ID10009987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186603449..186878442hg38UCSC Ensembl
Innerchr1:186572581..186847574hg19UCSC Ensembl
Innerchr1:184839204..185114197hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38274994
hg19274994
hg18274994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762854
Supporting Variants
SamplesSW_0568
Known GenesPLA2G4A, PTGS2
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)essv7003312
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