A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779729



Internal ID18827770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7418480..7869447hg38UCSC Ensembl
Innerchr8:7276002..7726969hg19UCSC Ensembl
Innerchr8:7263412..7764379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38450968
hg19450968
hg18500968
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, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779729
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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