A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7032n100



Internal ID20158648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12305218..12585534hg38UCSC Ensembl
chr8:12162727..12443043hg19UCSC Ensembl
chr8:12207096..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38280317
hg19280317
hg18280319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015451, nsv1020890, nsv1017316, nsv1030355, nsv1024530, nsv1027853, nsv1018707, nsv1025581, nsv1030855
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B2, FAM90A25P, LOC100133267, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7032n100
Frequency
Sample Size29084
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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