A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023560



Internal ID9993720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101785297..101864933hg38UCSC Ensembl
Innerchr15:102325500..102405136hg19UCSC Ensembl
Innerchr15:100143023..100222659hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3879637
hg1979637
hg1879637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760373
Supporting Variants
SamplesRW_0220
Known GenesOR4F13P, OR4F15, OR4F6
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)essv7023560
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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