A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659860



Internal ID9579279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122966789..122970169hg38UCSC Ensembl
chr9:125729068..125732448hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383381
hg193381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5640680
SamplesHG00114
Known GenesRABGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659860
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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