A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7040n100



Internal ID22793127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12340733..12720569hg38UCSC Ensembl
chr8:12198242..12578078hg19UCSC Ensembl
chr8:12242613..12622449hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38379837
hg19379837
hg18379837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026283, nsv1033766, nsv1027257, nsv1022603, nsv1015147, nsv1017303, nsv1024731, nsv1030251, nsv1017921, nsv1023255, nsv1023954, nsv1028761, nsv1031210, nsv1024561
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, 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)dgv7040n100
Frequency
Sample Size11257
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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