A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789999



Internal ID19165185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:12763161..13331336hg38UCSC Ensembl
Innerchr20:12743808..13311983hg19UCSC Ensembl
Innerchr20:12691808..13259983hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38568176
hg19568176
hg18568176
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893288
Supporting Variants
Samples
Known GenesISM1, ISM1-AS1, SPTLC3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=193
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789999
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer