A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786937



Internal ID18815955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788513..7876431hg38UCSC Ensembl
Innerchr8:7646035..7733953hg19UCSC Ensembl
Innerchr8:7683445..7771363hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3887919
hg1987919
hg1887919
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891323
Supporting Variants
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11A, SPAG11B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786937
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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