A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1543n100



Internal ID22787630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88387330..88463964hg38UCSC Ensembl
chr12:88781107..88857741hg19UCSC Ensembl
chr12:87305238..87381872hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3876635
hg1976635
hg1876635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050412, nsv1042588
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)dgv1543n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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