A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1374n100



Internal ID20152990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9968689..10026775hg38UCSC Ensembl
chr12:10121288..10179374hg19UCSC Ensembl
chr12:10012555..10070641hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3858087
hg1958087
hg1858087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042106, nsv1040610, nsv1043125
Samples
Known GenesCLEC12A, CLEC12B, CLEC1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1374n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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