A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763420



Internal ID10376100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:183262435..183284368hg38UCSC Ensembl
Innerchr4:184183588..184205521hg19UCSC Ensembl
Innerchr4:184420582..184442515hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3821934
hg1921934
hg1821934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030377
SamplesSW_1455
Known GenesWWC2
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)esv2763420
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