A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1305n100



Internal ID20152921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134363845..134416469hg38UCSC Ensembl
chr11:134233739..134286363hg19UCSC Ensembl
chr11:133738949..133791573hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3852625
hg1952625
hg1852625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050936, nsv1049519, nsv1051445
Samples
Known GenesB3GAT1, GLB1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1305n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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