A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762141



Internal ID10029491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211365343..211430501hg38UCSC Ensembl
Innerchr1:211538685..211603843hg19UCSC Ensembl
Innerchr1:209605308..209670466hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3865159
hg1965159
hg1865159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005389
SamplesSW_0841
Known GenesLINC00467, TRAF5
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)esv2762141
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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