A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000469



Internal ID10026706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101545397..101928837hg38UCSC Ensembl
Innerchr15:102085600..102469040hg19UCSC Ensembl
Innerchr15:99903123..100286563hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38383441
hg19383441
hg18383441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761688
Supporting Variants
SamplesSW_1484
Known GenesOR4F13P, OR4F15, OR4F4, OR4F6, TARSL2, TM2D3
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)essv7000469
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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