A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000473



Internal ID10021692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101790861..101835231hg38UCSC Ensembl
Innerchr15:102331064..102375434hg19UCSC Ensembl
Innerchr15:100148587..100192957hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3844371
hg1944371
hg1844371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761688
Supporting Variants
SamplesSW_1265
Known GenesOR4F15, 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)essv7000473
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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