A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv119e203



Internal ID22760815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49501149..49656595hg38UCSC Ensembl
chr4:49503166..49658612hg19UCSC Ensembl
chr4:49197923..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 Variants
Supporting Variantsesv2763830, esv2760825
SamplesSW_0158, SW_0834, SW_0786, RW_0631, RW_0004, RW_0349, SW_1131, RW_0666, RW_0587, SW_0176, RW_0589, SW_0674, RW_0612, SW_1119
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)dgv119e203
Frequency
Sample Size1109
Observed Gain6
Observed Loss8
Observed Complex0
Frequencyn/a


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