A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv82n82



Internal ID20148445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76520224..76544535hg38UCSC Ensembl
chr7:76149541..76173852hg19UCSC Ensembl
chr7:75987477..76011788hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3824312
hg1924312
hg1824312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv970542, nsv981671
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUPK3B
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv82n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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