A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5598810



Internal ID9479636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:77216348..77218030hg38UCSC Ensembl
Outerchr9:77216191..77218183hg38UCSC Ensembl
Innerchr9:79831264..79832946hg19UCSC Ensembl
Outerchr9:79831107..79833099hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381993
hg191993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672384
Supporting Variants
SamplesNA18950
Known GenesVPS13A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5598810
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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