A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790375



Internal ID18815749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7368538..7917598hg38UCSC Ensembl
Innerchr8:7226060..7775120hg19UCSC Ensembl
Innerchr8:7213470..7812530hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38549061
hg19549061
hg18599061
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891321
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=33
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790375
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