A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023104



Internal ID9988081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32166460..32339520hg38UCSC Ensembl
Innerchr15:32458661..32631721hg19UCSC Ensembl
Innerchr15:30245953..30419013hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38173061
hg19173061
hg18173061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760365
Supporting Variants
SamplesRW_0085
Known GenesCHRNA7
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)essv7023104
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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