A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761916



Internal ID10029266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:77243108..77521936hg38UCSC Ensembl
Innerchr16:77277005..77555833hg19UCSC Ensembl
Innerchr16:75834506..76113334hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38278829
hg19278829
hg18278829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001280
SamplesSW_1335
Known GenesADAMTS18
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)esv2761916
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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