A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663679



Internal ID9583098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31499474..31515040hg38UCSC Ensembl
Outerchr22:31499437..31515090hg38UCSC Ensembl
Innerchr22:31895460..31911026hg19UCSC Ensembl
Outerchr22:31895423..31911076hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3815654
hg1915654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6425045
SamplesNA19700
Known GenesSFI1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663679
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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