A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12094n54



Internal ID22779989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39367449..39546375hg38UCSC Ensembl
chr8:39224968..39403894hg19UCSC Ensembl
chr8:39344125..39523051hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38178927
hg19178927
hg18178927
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611031, nsv611014, nsv611040, nsv611012, nsv611011, nsv610955, nsv610971, nsv611044
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12094n54
Frequency
Sample Size17421
Observed Gain65
Observed Loss844
Observed Complex0
Frequencyn/a


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