A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657752



Internal ID9923857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75348489..75353834hg38UCSC Ensembl
chr9:77963405..77968750hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg385346
hg195346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6496827, essv5766334, essv5894172, essv6409283
SamplesHG01465, NA20785, NA20504, HG00259
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657752
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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