A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788932



Internal ID18825197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47946170..48481354hg38UCSC Ensembl
Innerchr20:46574914..47109600hg19UCSC Ensembl
Innerchr20:46008321..46543007hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38535185
hg19534687
hg18534687
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893343
Supporting Variants
Samples
Known GenesLINC00494
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=227
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788932
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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