A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664821



Internal ID9584240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40064800..40069442hg38UCSC Ensembl
Outerchr22:40064643..40069638hg38UCSC Ensembl
Innerchr22:40460804..40465446hg19UCSC Ensembl
Outerchr22:40460647..40465642hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384996
hg194996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6244847, essv6380158
SamplesNA19399, NA19440
Known GenesTNRC6B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664821
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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