A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763793



Internal ID10377829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49091769..49307837hg38UCSC Ensembl
Innerchr4:49093786..49309854hg19UCSC Ensembl
Innerchr4:48788543..49004611hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38216069
hg19216069
hg18216069
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv118e203
Supporting Variantsessv7029251, essv7029253, essv7029252
SamplesSW_1371, SW_1478, SW_0269
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)esv2763793
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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