A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789389



Internal ID19165894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14122233..14188490hg38UCSC Ensembl
Innerchr20:14102879..14169136hg19UCSC Ensembl
Innerchr20:14050879..14117136hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3866258
hg1966258
hg1866258
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893289
Supporting Variants
Samples
Known GenesMACROD2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789389
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