A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7016n100



Internal ID20158632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12004288..12720569hg38UCSC Ensembl
chr8:11861797..12578078hg19UCSC Ensembl
chr8:11899206..12622449hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38716282
hg19716282
hg18723244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028731, nsv1023638, nsv1023236, nsv1035061, nsv1034513, nsv1019595, nsv1029806, nsv1021066
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)dgv7016n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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