A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658430



Internal ID9577849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20043606..20045148hg38UCSC Ensembl
Outerchr22:20043569..20045198hg38UCSC Ensembl
Innerchr22:20031129..20032671hg19UCSC Ensembl
Outerchr22:20031092..20032721hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381630
hg191630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6214667, essv5848732
SamplesNA18610, NA18574
Known GenesTANGO2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658430
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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