A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027144



Internal ID10366457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994359..53005100hg38UCSC Ensembl
Innerchr3:53028375..53039116hg19UCSC Ensembl
Innerchr3:53003415..53014156hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3810742
hg1910742
hg1810742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763768
Supporting Variants
SamplesSW_1182
Known GenesSFMBT1
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)essv7027144
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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