A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6978n100



Internal ID20158594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7888834..8008628hg38UCSC Ensembl
chr8:7746356..7866150hg19UCSC Ensembl
chr8:7783766..7903560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38119795
hg19119795
hg18119795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022608, nsv1025950, nsv1020387, nsv1027902
Samples
Known GenesDEFB109P1B, DEFB4A, FAM66E, 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)dgv6978n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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