A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781436



Internal ID18828158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7418480..7917598hg38UCSC Ensembl
Innerchr8:7276002..7775120hg19UCSC Ensembl
Innerchr8:7263412..7812530hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38499119
hg19499119
hg18549119
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891321
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781436
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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