A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1290e199



Internal ID22759063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65179557..65182423hg38UCSC Ensembl
chr8:66091792..66094658hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382867
hg192867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2678451, esv2665620
SamplesNA18502, HG01060, NA19701, HG01173, NA18924, NA19399, NA19914, NA19332, NA19704, NA19350, NA19819, NA19393, NA18504, NA18870, NA18510, NA19446, NA19374, NA19381, NA19373, NA19171, NA19379, NA19198, NA19131, NA19197, NA19138, HG01365, NA19384, NA19130, NA19404, NA19383, NA19372, NA19371, NA19207, NA19385, NA19189, NA19456, NA18908, NA18867, NA19247, NA19437, NA19403, NA19152, NA18933, NA19391, NA19455, NA19236, NA18516, NA18910, NA19114, NA18499, NA18912, NA18853, NA19099, NA19338, NA19257, NA19452, NA19225, NA19395, NA18858, NA19401, NA19375, NA19440, NA19834, NA19321, NA19434, NA19444, NA19144, HG01375, NA19428, NA19467, HG01137, HG01108, NA19360, NA19818, NA19328, NA18501, NA19438, NA19472, NA19223, NA19468, NA19102, NA18873, NA19116, NA19900, NA19430, NA19312, NA18522, HG00554, NA19346, NA19431
Known GenesLINC00251
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1290e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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