A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791498



Internal ID18818731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7368538..8207524hg38UCSC Ensembl
Innerchr8:7226060..8065046hg19UCSC Ensembl
Innerchr8:7213470..8102456hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38838987
hg19838987
hg18888987
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891318
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=89
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791498
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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