A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11717n54



Internal ID22779612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149854904..149888290hg38UCSC Ensembl
chr7:149551993..149585379hg19UCSC Ensembl
chr7:149182926..149216312hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3833387
hg1933387
hg1833387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608988, nsv608989
SamplesHGDP00960, HGDP01102, HGDP00817, HGDP00753, HGDP00973
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11717n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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