A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763830



Internal ID10377866
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 Variantsessv7029259, essv7029258, essv7029256, essv7029254, essv7029255, essv7029261, essv7029260
SamplesSW_0158, SW_0834, SW_0786, SW_1131, SW_0176, SW_0674, 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)esv2763830
Frequency
Sample Size1109
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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