A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7015n100



Internal ID20158631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12004288..12616361hg38UCSC Ensembl
chr8:11861797..12473870hg19UCSC Ensembl
chr8:11899206..12518241hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38612074
hg19612074
hg18619036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018208, nsv1016289, nsv1021427, nsv1016045, nsv1026586, nsv1022425, nsv1027834, nsv1031152, nsv1022300, nsv1023844, nsv1020825, nsv1018919, nsv1031187, nsv1021915, nsv1026829
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)dgv7015n100
Frequency
Sample Size29084
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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