A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1408n100



Internal ID22787495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28547186..28592397hg38UCSC Ensembl
chr12:28700119..28745330hg19UCSC Ensembl
chr12:28591386..28636597hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3845212
hg1945212
hg1845212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1037864, nsv1047867
Samples
Known GenesCCDC91
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1408n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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