A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785076



Internal ID18830581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7418480..7935485hg38UCSC Ensembl
Innerchr8:7276002..7793007hg19UCSC Ensembl
Innerchr8:7263412..7830417hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38517006
hg19517006
hg18567006
Variant TypeCNV loss
Copy Number1
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, ZNF705B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785076
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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