A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784444



Internal ID18832789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14707873..14878264hg38UCSC Ensembl
Innerchr20:14688519..14858910hg19UCSC Ensembl
Innerchr20:14636519..14806910hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38170392
hg19170392
hg18170392
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893296
Supporting Variants
Samples
Known GenesMACROD2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=67
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784444
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