A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6976n100



Internal ID20158592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7886530..8132760hg38UCSC Ensembl
chr8:7744052..7990282hg19UCSC Ensembl
chr8:7781462..8027692hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38246231
hg19246231
hg18246231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030365, nsv1022255, nsv1030825, nsv1015642, nsv1031934, nsv1015772, nsv1021798
Samples
Known GenesDEFB109P1B, DEFB4A, FAM66E, MIR548I3, 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)dgv6976n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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