A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7336n100



Internal ID20158952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143510004..143616975hg38UCSC Ensembl
chr8:144592174..144699145hg19UCSC Ensembl
chr8:144663317..144770288hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38106972
hg19106972
hg18106972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017479, nsv1018903, nsv1024508, nsv1028335
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3, ZC3H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7336n100
Frequency
Sample Size29084
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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