A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763308



Internal ID10030658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:154186065..154347347hg38UCSC Ensembl
Innerchr3:153903854..154065136hg19UCSC Ensembl
Innerchr3:155386544..155547830hg18UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38161283
hg19161283
hg18161287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027965
SamplesSW_0623
Known GenesARHGEF26, DHX36, GPR149
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)esv2763308
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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