A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6973n100



Internal ID20158589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7886530..7919637hg38UCSC Ensembl
chr8:7744052..7777159hg19UCSC Ensembl
chr8:7781462..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3833108
hg1933108
hg1833108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022372, nsv1019009, nsv1028465
Samples
Known GenesDEFB4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6973n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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