A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11911n54



Internal ID20145335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7234947..7945154hg38UCSC Ensembl
chr8:7092469..7802676hg19UCSC Ensembl
chr8:7079879..7840086hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38710208
hg19710208
hg18760208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610050, nsv610059, nsv610056, nsv610058, nsv610034, nsv610066, nsv610057
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L4, ZNF705B, ZNF705G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11911n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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