A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790528



Internal ID18824073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7418480..8185380hg38UCSC Ensembl
Innerchr8:7276002..8042902hg19UCSC Ensembl
Innerchr8:7263412..8080312hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38766901
hg19766901
hg18816901
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891318
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=85
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790528
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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