A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1464n100



Internal ID22787551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:37463949..37593912hg38UCSC Ensembl
chr12:37857751..37987714hg19UCSC Ensembl
chr12:36144018..36273981hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38129964
hg19129964
hg18129964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048872, nsv1049436
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)dgv1464n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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