A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1230n100



Internal ID20152846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77064328..77184255hg38UCSC Ensembl
chr11:76775375..76895300hg19UCSC Ensembl
chr11:76453023..76572948hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38119928
hg19119926
hg18119926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042729, nsv1035784, nsv1055029, nsv1049274, nsv1038615, nsv1044709
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)dgv1230n100
Frequency
Sample Size29084
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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