A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891323



Internal ID18839033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788513..7876431hg38UCSC Ensembl
Outerchr8:7788513..7945154hg38UCSC Ensembl
Innerchr8:7646035..7733953hg19UCSC Ensembl
Outerchr8:7646035..7802676hg19UCSC Ensembl
Innerchr8:7683445..7771363hg18UCSC Ensembl
Outerchr8:7683445..7840086hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38156642
hg19156642
hg18156642
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792875, essv25786937
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891323
Frequency
Sample Size3017
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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