A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018005



Internal ID10350704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104601552..104609485hg38UCSC Ensembl
Innerchr9:107363833..107371766hg19UCSC Ensembl
Innerchr9:106403654..106411587hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg387934
hg197934
hg187934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761260
Supporting Variants
SamplesRW_0648
Known GenesOR13C2
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)essv7018005
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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