A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778246



Internal ID18825650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38132166..38140631hg38UCSC Ensembl
Innerchr20:36760568..36769033hg19UCSC Ensembl
Innerchr20:36193982..36202447hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg388466
hg198466
hg188466
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893333
Supporting Variants
Samples
Known GenesTGM2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778246
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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