A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6883n100



Internal ID22792970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7018608..7153553hg38UCSC Ensembl
chr8:6876130..7011075hg19UCSC Ensembl
chr8:6863540..6998485hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38134946
hg19134946
hg18134946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035079, nsv1025901, nsv1019675, nsv1020749, nsv1034383
Samples
Known GenesDEFA11P, DEFA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6883n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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