A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891325



Internal ID18839035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7418480..7536511hg38UCSC Ensembl
Outerchr8:7418480..7536511hg38UCSC Ensembl
Innerchr8:7276002..7394033hg19UCSC Ensembl
Outerchr8:7276002..7394033hg19UCSC Ensembl
Innerchr8:7263412..7381443hg18UCSC Ensembl
Outerchr8:7263412..7381443hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38118032
hg19118032
hg18118032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792633
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891325
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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