A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11914n54



Internal ID20145338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7342633..8287918hg38UCSC Ensembl
chr8:7200155..8145440hg19UCSC Ensembl
chr8:7187565..8182850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38945286
hg19945286
hg18995286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610062, nsv610051, nsv610040, nsv610042
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11914n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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