A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672875



Internal ID9938980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75488777..75490228hg38UCSC Ensembl
Outerchr16:75488740..75490287hg38UCSC Ensembl
Innerchr16:75522675..75524126hg19UCSC Ensembl
Outerchr16:75522638..75524185hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5708056
SamplesNA19469
Known GenesCHST6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672875
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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