A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7167n100



Internal ID22793254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39368209..39505415hg38UCSC Ensembl
chr8:39225728..39362934hg19UCSC Ensembl
chr8:39344885..39482091hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38137207
hg19137207
hg18137207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020940, nsv1019117, nsv1031641, nsv1022557, nsv1016810, nsv1020090, nsv1021782, nsv1029463, nsv1020419, nsv1016546, nsv1029394, nsv1017087, nsv1026563, nsv1025878, nsv1030720, nsv1026434, nsv1033524, nsv1027828, nsv1029982, nsv1019366, nsv1022526, nsv1033840, nsv1031266, nsv1018361, nsv1030115, nsv1033666, nsv1027759, nsv1029293
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7167n100
Frequency
Sample Size11257
Observed Gain109
Observed Loss0
Observed Complex0
Frequencyn/a


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