A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796374



Internal ID18819790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14891667..15083033hg38UCSC Ensembl
Innerchr20:14872313..15063679hg19UCSC Ensembl
Innerchr20:14820313..15011679hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38191367
hg19191367
hg18191367
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893299
Supporting Variants
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=54
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796374
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