A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761688



Internal ID10029038
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000471, essv7000472, essv7000475, essv7000486, essv7000479, essv7000473, essv7000481, essv7000484, essv7000469, essv7000485, essv7000482, essv7000478, essv7000483, essv7000480, essv7000470, essv7000474, essv7000476
SamplesSW_1427, SW_1325, SW_0353, SW_1013, SW_1469, SW_1408, SW_1357, SW_1543, SW_1295, SW_1265, SW_0618, SW_0814, SW_0579, SW_1273, SW_1484, SW_0148, SW_1026
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)esv2761688
Frequency
Sample Size1109
Observed Gain10
Observed Loss7
Observed Complex0
Frequencyn/a


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