A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1416n100



Internal ID20153032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30962179..31018366hg38UCSC Ensembl
chr12:31115114..31171300hg19UCSC Ensembl
chr12:31006381..31062567hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3856188
hg1956187
hg1856187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047264, nsv1049505, nsv1043203
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1416n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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