A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7263n100



Internal ID20158879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86149208..86325031hg38UCSC Ensembl
chr8:87161437..87337260hg19UCSC Ensembl
chr8:87230553..87406376hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38175824
hg19175824
hg18175824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030401, nsv1016050, nsv1031874, nsv1033960, nsv1016177, nsv1023114, nsv1023772, nsv1027648, nsv1020485, nsv1033007
Samples
Known GenesATP6V0D2, SLC7A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7263n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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