A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001588



Internal ID10019743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161554263hg38UCSC Ensembl
Innerchr1:161496900..161524053hg19UCSC Ensembl
Innerchr1:159763524..159790677hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3827154
hg1927154
hg1827154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763869
Supporting Variants
SamplesSW_1180
Known GenesFCGR3A
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)essv7001588
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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