A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658288



Internal ID9924393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37946238..37948600hg38UCSC Ensembl
chr22:38342245..38344607hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382363
hg192363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv830e199
Supporting Variantsessv6206568, essv6443701
SamplesNA19462, NA19257
Known GenesC22orf23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658288
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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