A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760904



Internal ID10377211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91794961..92198971hg38UCSC Ensembl
Innerchr4:92716112..93120122hg19UCSC Ensembl
Innerchr4:92935135..93339145hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38404011
hg19404011
hg18404011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011408, essv7011409, essv7011414, essv7011413, essv7011407, essv7011412, essv7011406
SamplesRW_0292, RW_0230, RW_0600, RW_0349, RW_0177, RW_0527, RW_0507
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)esv2760904
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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