A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1529n100



Internal ID22787616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80025250..80051324hg38UCSC Ensembl
chr12:80419030..80445104hg19UCSC Ensembl
chr12:78943161..78969235hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3826075
hg1926075
hg1826075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050277, nsv1045870, nsv1038400, nsv1040324
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)dgv1529n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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