A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1330n100



Internal ID20152946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..233978hg38UCSC Ensembl
chr12:150430..343144hg19UCSC Ensembl
chr12:20691..213405hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38188978
hg19192715
hg18192715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041243, nsv1042313, nsv1038621
Samples
Known GenesIQSEC3, LOC574538, SLC6A12, SLC6A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1330n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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