A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1329n100



Internal ID22787416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..157639hg38UCSC Ensembl
chr12:150430..266805hg19UCSC Ensembl
chr12:20691..137066hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38112639
hg19116376
hg18116376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043429, nsv1051039, nsv1044245, nsv1052647, nsv1043931
Samples
Known GenesIQSEC3, LOC574538
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1329n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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