A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792875



Internal ID18822028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788513..7945154hg38UCSC Ensembl
Innerchr8:7646035..7802676hg19UCSC Ensembl
Innerchr8:7683445..7840086hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38156642
hg19156642
hg18156642
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891323
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792875
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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