A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789143



Internal ID18821425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7473671..7895029hg38UCSC Ensembl
Innerchr8:7331193..7752551hg19UCSC Ensembl
Innerchr8:7318603..7789961hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38421359
hg19421359
hg18471359
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, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789143
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