A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666189



Internal ID9932294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37839635..37847101hg38UCSC Ensembl
chr22:38235642..38243108hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg387467
hg197467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6485931
SamplesNA19360
Known GenesANKRD54, MIR658
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666189
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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