A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677987



Internal ID9944092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126376630..126378377hg38UCSC Ensembl
chr9:129138909..129140656hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5584493
SamplesNA19190
Known GenesMVB12B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677987
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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