A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1327n100



Internal ID22787414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..130621hg38UCSC Ensembl
chr12:150430..239787hg19UCSC Ensembl
chr12:20691..110048hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3885621
hg1989358
hg1889358
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042624, nsv1040064
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1327n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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