A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993173



Internal ID10005387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52508678..52819553hg38UCSC Ensembl
Innerchr8:53421238..53732113hg19UCSC Ensembl
Innerchr8:53583791..53894666hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38310876
hg19310876
hg18310876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764065
Supporting Variants
SamplesSW_0029
Known GenesFAM150A, RB1CC1
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)essv6993173
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