A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665179



Internal ID9931284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165452569..165454962hg38UCSC Ensembl
chr1:165421806..165424199hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382394
hg192394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6040120, essv5911376, essv5399621, essv6553927, essv5406091
SamplesNA19190, NA18868, HG01124, NA18516, NA19223
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665179
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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