A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv69n82



Internal ID22782903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181465154..181478259hg38UCSC Ensembl
chr5:180892155..180905260hg19UCSC Ensembl
chr5:180824761..180837969hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3813106
hg1913106
hg1813209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv980776, nsv965051
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv69n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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