A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006612



Internal ID9991342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161652379hg38UCSC Ensembl
Innerchr1:161513759..161622169hg19UCSC Ensembl
Innerchr1:159780383..159888793hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38108411
hg19108411
hg18108411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764263
Supporting Variants
SamplesRW_0171
Known GenesFCGR2C, FCGR3A, FCGR3B, HSPA7
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)essv7006612
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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