A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675874



Internal ID9595293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45003609..45009617hg38UCSC Ensembl
chr3:45045101..45051109hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386009
hg196009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5568908
SamplesNA19057
Known GenesEXOSC7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675874
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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