A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023548



Internal ID9988518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99799126..100057793hg38UCSC Ensembl
Innerchr15:100339331..100597998hg19UCSC Ensembl
Innerchr15:98156854..98415521hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38258668
hg19258668
hg18258668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760367
Supporting Variants
SamplesRW_0098
Known GenesADAMTS17, DNM1P46
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)essv7023548
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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