A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006608



Internal ID9993253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161642456hg38UCSC Ensembl
Innerchr1:161496900..161612246hg19UCSC Ensembl
Innerchr1:159763524..159878870hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38115347
hg19115347
hg18115347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764263
Supporting Variants
SamplesRW_0211
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)essv7006608
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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