A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668071



Internal ID9934176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191293421..191295876hg38UCSC Ensembl
chr3:191011210..191013665hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382456
hg192456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6204437, essv6272871, essv5409471, essv6533528, essv6524241, essv5576429, essv5792890, essv6443980, essv5893688, essv5571457, essv6529312, essv5622042, essv5890827
SamplesNA18510, NA19373, NA19651, NA18868, NA19462, NA19453, NA19257, NA19225, NA19436, NA19834, NA19256, NA19380, NA19398
Known GenesUTS2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668071
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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