A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6950n100



Internal ID20158566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7513944..8104925hg38UCSC Ensembl
chr8:7371466..7962447hg19UCSC Ensembl
chr8:7358876..7999857hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38590982
hg19590982
hg18640982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021364, nsv1016552, nsv1025202
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6950n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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