A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1393n100



Internal ID20153009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14156211..14470137hg38UCSC Ensembl
chr12:14309145..14623071hg19UCSC Ensembl
chr12:14200412..14514338hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38313927
hg19313927
hg18313927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040249, nsv1035684
Samples
Known GenesATF7IP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1393n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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