A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7018n100



Internal ID19017386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12077151..12585534hg38UCSC Ensembl
chr8:11934660..12443043hg19UCSC Ensembl
chr8:11972069..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38508384
hg19508384
hg18515346
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022417, nsv1018928, nsv1017647, nsv1021584, nsv1026976, nsv1031706
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, 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)dgv7018n100
Frequency
Sample Size29084
Observed Gain27
Observed Loss7
Observed Complex0
Frequencyn/a


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