A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760367



Internal ID10027730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99799126..100060270hg38UCSC Ensembl
Innerchr15:100339331..100600475hg19UCSC Ensembl
Innerchr15:98156854..98417998hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38261145
hg19261145
hg18261145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023549, essv7023548, essv7023550, essv7023551
SamplesRW_0105, RW_0354, RW_0098, RW_0047
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)esv2760367
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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