A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7052n100



Internal ID22793139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12374760..12532643hg38UCSC Ensembl
chr8:12232269..12390152hg19UCSC Ensembl
chr8:12276640..12434523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38157884
hg19157884
hg18157884
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020860, nsv1024181, nsv1021111, nsv1025926, nsv1018490, nsv1018713, nsv1026015, nsv1030779, nsv1019959, nsv1024901, nsv1015887, nsv1029080, nsv1027641, nsv1034314, nsv1026245, nsv1017457
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7052n100
Frequency
Sample Size11257
Observed Gain116
Observed Loss55
Observed Complex0
Frequencyn/a


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