A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7017n100



Internal ID20158633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12035719..12468589hg38UCSC Ensembl
chr8:11893228..12326098hg19UCSC Ensembl
chr8:11930637..12370469hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38432871
hg19432871
hg18439833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028459, nsv1029275, nsv1017245, nsv1025797, nsv1015618, nsv1024630, nsv1025005, nsv1029679, nsv1029057, nsv1032333
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7017n100
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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