A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1536n100



Internal ID22787623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83646510..84072824hg38UCSC Ensembl
chr12:84040289..84466603hg19UCSC Ensembl
chr12:82564420..82990734hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38426315
hg19426315
hg18426315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035252, nsv1041804, nsv1035818
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)dgv1536n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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