A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763395



Internal ID10376075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:145355043..145380672hg38UCSC Ensembl
Innerchr4:146276195..146301824hg19UCSC Ensembl
Innerchr4:146495645..146521274hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3825630
hg1925630
hg1825630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030175
SamplesSW_0339
Known Genes
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)esv2763395
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