A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1232n100



Internal ID20152848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77087907..77187728hg38UCSC Ensembl
chr11:76798953..76898773hg19UCSC Ensembl
chr11:76476601..76576421hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3899822
hg1999821
hg1899821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041420, nsv1038180
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)dgv1232n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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