A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586758



Internal ID6711454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7354138..7585485hg38UCSC Ensembl
Innerchr8:7211660..7443007hg19UCSC Ensembl
Innerchr8:7199070..7430417hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38231348
hg19231348
hg18231348
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996398
Supporting Variants
SamplesHuRef
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM66B, FAM90A7P, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586758
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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