A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1503n100



Internal ID20153119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52285116..52394255hg38UCSC Ensembl
chr12:52678900..52788039hg19UCSC Ensembl
chr12:50965167..51074306hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38109140
hg19109140
hg18109140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045080, nsv1045038, nsv1046056, nsv1042889, nsv1051579, nsv1038963, nsv1052769, nsv1035461, nsv1052791, nsv1039320, nsv1053294, nsv1040553, nsv1036648, nsv1044427, nsv1037463, nsv1036614, nsv1043357, nsv1035402
Samples
Known GenesKRT81, KRT82, KRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1503n100
Frequency
Sample Size29084
Observed Gain67
Observed Loss0
Observed Complex0
Frequencyn/a


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