A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1485n100



Internal ID22787572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:37813228..38518710hg38UCSC Ensembl
chr12:38207030..38912512hg19UCSC Ensembl
chr12:36493297..37198779hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38705483
hg19705483
hg18705483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036471, nsv1047550, nsv1035850
Samples
Known GenesALG10B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1485n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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