A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1533n100



Internal ID22787620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83209773..83278878hg38UCSC Ensembl
chr12:83603552..83672657hg19UCSC Ensembl
chr12:82127683..82196788hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3869106
hg1969106
hg1869106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050732, nsv1046478, nsv1047043
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1533n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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