A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11928n54



Internal ID20145352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7757106..8248986hg38UCSC Ensembl
chr8:7614628..8106508hg19UCSC Ensembl
chr8:7652038..8143918hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38491881
hg19491881
hg18491881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610098, nsv610128, nsv610112, nsv610100, nsv610099
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM86B3P, FAM90A10P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11928n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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