A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001655



Internal ID10007659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161668723hg38UCSC Ensembl
Innerchr1:161513759..161638513hg19UCSC Ensembl
Innerchr1:159780383..159905137hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38124755
hg19124755
hg18124755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763869
Supporting Variants
SamplesSW_0170
Known GenesFCGR2B, FCGR2C, 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)essv7001655
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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