A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6879n100



Internal ID20158495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6951385..7368902hg38UCSC Ensembl
chr8:6808907..7226424hg19UCSC Ensembl
chr8:6796317..7213834hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38417518
hg19417518
hg18417518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017134, nsv1016218
Samples
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFA8P, DEFA9P, DEFB109P1B, DEFT1P, DEFT1P2, FAM66B, LINC00965, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6879n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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