A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790006



Internal ID18836267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7432672..7887023hg38UCSC Ensembl
Innerchr8:7290194..7744545hg19UCSC Ensembl
Innerchr8:7277604..7781955hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38454352
hg19454352
hg18504352
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, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790006
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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