A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760825



Internal ID10377132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49501149..49656595hg38UCSC Ensembl
Innerchr4:49503166..49658612hg19UCSC Ensembl
Innerchr4:49197923..49353369hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38155447
hg19155447
hg18155447
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv119e203
Supporting Variantsessv7010870, essv7010872, essv7010869, essv7010871, essv7010874, essv7010875, essv7010873
SamplesRW_0631, RW_0004, RW_0349, RW_0666, RW_0587, RW_0589, RW_0612
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)esv2760825
Frequency
Sample Size1109
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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