A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6878n100



Internal ID20158494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6712833..7392846hg38UCSC Ensembl
chr8:6570354..7250368hg19UCSC Ensembl
chr8:6557762..7237778hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38680014
hg19680015
hg18680017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025587, nsv1027883
Samples
Known GenesAGPAT5, DEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFB109P1B, DEFT1P, DEFT1P2, FAM66B, LINC00965, LOC100652791, MIR4659A, MIR4659B, USP17L1P, USP17L4, XKR5, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6878n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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