A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018041



Internal ID10341448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112894140..112902019hg38UCSC Ensembl
Innerchr9:115656420..115664299hg19UCSC Ensembl
Innerchr9:114696241..114704120hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg387880
hg197880
hg187880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761270
Supporting Variants
SamplesRW_0248
Known Genes
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)essv7018041
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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