A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667148



Internal ID9933253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85703349..85703652hg38UCSC Ensembl
chr6:86413067..86413370hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5639812, essv5586556, essv5712462, essv5702813, essv5838619
SamplesNA20332, NA19374, NA18916, NA19327, NA19395
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667148
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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