A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023551



Internal ID9998136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99814289..100060270hg38UCSC Ensembl
Innerchr15:100354494..100600475hg19UCSC Ensembl
Innerchr15:98172017..98417998hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38245982
hg19245982
hg18245982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760367
Supporting Variants
SamplesRW_0354
Known GenesADAMTS17
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)essv7023551
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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