A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760882



Internal ID10377189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98539334..98600194hg38UCSC Ensembl
Innerchr4:99460485..99521345hg19UCSC Ensembl
Innerchr4:99679508..99740368hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3860861
hg1960861
hg1860861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011420, essv7011419
SamplesRW_0253, RW_0155
Known GenesTSPAN5
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)esv2760882
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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