A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893288



Internal ID19184108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:12763161..13331336hg38UCSC Ensembl
Outerchr20:12763161..13331336hg38UCSC Ensembl
Innerchr20:12743808..13311983hg19UCSC Ensembl
Outerchr20:12743808..13311983hg19UCSC Ensembl
Innerchr20:12691808..13259983hg18UCSC Ensembl
Outerchr20:12691808..13259983hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38568176
hg19568176
hg18568176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789999
Samples
Known GenesISM1, ISM1-AS1, SPTLC3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893288
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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