A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6975n100



Internal ID20158591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7886530..7941317hg38UCSC Ensembl
chr8:7744052..7798839hg19UCSC Ensembl
chr8:7781462..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3854788
hg1954788
hg1854788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027644, nsv1031646, nsv1032790
Samples
Known GenesDEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6975n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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