A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7019n100



Internal ID20158635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12077151..12670907hg38UCSC Ensembl
chr8:11934660..12528416hg19UCSC Ensembl
chr8:11972069..12572787hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38593757
hg19593757
hg18600719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017686, nsv1018090, nsv1034744, nsv1018014, nsv1022337, nsv1022120, nsv1015246, nsv1034702, nsv1031434, nsv1017441, nsv1034216, nsv1019376, nsv1029424, nsv1018469, nsv1019468, nsv1028451, nsv1031222
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)dgv7019n100
Frequency
Sample Size29084
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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