A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1111n100



Internal ID20152727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47653918..48644472hg38UCSC Ensembl
chr11:47675470..48666024hg19UCSC Ensembl
chr11:47632046..48622600hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38990555
hg19990555
hg18990555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036992, nsv1052397
Samples
Known GenesAGBL2, FNBP4, NUP160, OR4A47, OR4B1, OR4C3, OR4C45, OR4S1, OR4X1, OR4X2, PTPRJ
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1111n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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