A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017973



Internal ID10350052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104599361..104604502hg38UCSC Ensembl
Innerchr9:107361642..107366783hg19UCSC Ensembl
Innerchr9:106401463..106406604hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg385142
hg195142
hg185142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761260
Supporting Variants
SamplesRW_0629
Known GenesOR13C5
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)essv7017973
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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