A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1012n100



Internal ID20152628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:198510..427836hg38UCSC Ensembl
chr11:198510..427836hg19UCSC Ensembl
chr11:188510..417836hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38229327
hg19229327
hg18229327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045559, nsv1048991, nsv1040003
Samples
Known GenesANO9, ATHL1, B4GALNT4, BET1L, IFITM1, IFITM2, IFITM3, IFITM5, MIR6743, NLRP6, ODF3, PKP3, PSMD13, RIC8A, SIGIRR, SIRT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1012n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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