A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996398



Internal ID6732342
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586758
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)esv996398
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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