A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760278



Internal ID10027641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:96268590..96272361hg38UCSC Ensembl
Innerchr13:96920844..96924615hg19UCSC Ensembl
Innerchr13:95718845..95722616hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg383772
hg193772
hg183772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021812, essv7021811
SamplesRW_0181, RW_0023
Known GenesHS6ST3
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)esv2760278
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer