A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv572e199



Internal ID22758345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80015946..80029493hg38UCSC Ensembl
chr17:77989745..78003292hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3813548
hg1913548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677682, esv2674338
SamplesNA19397, NA19909, NA19819, NA19920, NA19374, NA19396, NA19379, NA19917, NA20340, NA20127, NA19985, NA19403, NA19462, NA19347, NA20299, NA19338, NA19452, NA19395, NA19834, NA20276, NA19334, NA19376, NA19398, NA19328, NA19713, NA19474, NA19346
Known GenesTBC1D16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv572e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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