A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763419



Internal ID10030769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:182890517..182896521hg38UCSC Ensembl
Innerchr4:183811670..183817674hg19UCSC Ensembl
Innerchr4:184048664..184054668hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg386005
hg196005
hg186005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030376
SamplesSW_1176
Known GenesDCTD
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)esv2763419
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