A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1468n100



Internal ID20153084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:37463949..38757894hg38UCSC Ensembl
chr12:37857751..39151696hg19UCSC Ensembl
chr12:36144018..37437963hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg381293946
hg191293946
hg181293946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046696, nsv1048997
Samples
Known GenesALG10B, CPNE8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1468n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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