A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1233n100



Internal ID20152849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77102549..77177597hg38UCSC Ensembl
chr11:76813595..76888643hg19UCSC Ensembl
chr11:76491243..76566291hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3875049
hg1975049
hg1875049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042999, nsv1049996, nsv1042854
Samples
Known GenesCAPN5, MYO7A, OMP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1233n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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