A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761435



Internal ID10374233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:70702440..70719635hg38UCSC Ensembl
Innerchr8:71614675..71631870hg19UCSC Ensembl
Innerchr8:71777229..71794424hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3817196
hg1917196
hg1817196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993198
SamplesSW_1138
Known GenesXKR9
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)esv2761435
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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