A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790260



Internal ID18827803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28770903..28893864hg38UCSC Ensembl
Innerchr8:28628420..28751381hg19UCSC Ensembl
Innerchr8:28684339..28807300hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38122962
hg19122962
hg18122962
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891379
Supporting Variants
Samples
Known GenesHMBOX1, INTS9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790260
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