A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992071



Internal ID7077745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7712793..7935409hg38UCSC Ensembl
Innerchr8:7570315..7792931hg19UCSC Ensembl
Innerchr8:7607725..7830341hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38222617
hg19222617
hg18222617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586220
SamplesHuRef
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992071
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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