A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893343



Internal ID18837477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47946170..48481354hg38UCSC Ensembl
Outerchr20:47946170..48481354hg38UCSC Ensembl
Innerchr20:46574914..47109600hg19UCSC Ensembl
Outerchr20:46574914..47109600hg19UCSC Ensembl
Innerchr20:46008321..46543007hg18UCSC Ensembl
Outerchr20:46008321..46543007hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38535185
hg19534687
hg18534687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788932
Samples
Known GenesLINC00494
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893343
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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