A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1426n100



Internal ID22787513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31838364..31915943hg38UCSC Ensembl
chr12:31991298..32068877hg19UCSC Ensembl
chr12:31882565..31960144hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3877580
hg1977580
hg1877580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047457, nsv1047217, nsv1048981, nsv1040134, nsv1040674, nsv1035532, nsv1044246, nsv1049282, nsv1051705, nsv1038279, nsv1038688, nsv1035837, nsv1049872, nsv1040366, nsv1035759, nsv1044484
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)dgv1426n100
Frequency
Sample Size11257
Observed Gain145
Observed Loss0
Observed Complex0
Frequencyn/a


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