A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648076



Internal ID6688127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49954695..49960131hg38UCSC Ensembl
Innerchr22:49954717..49960110hg38UCSC Ensembl
Outerchr22:49954674..49960153hg38UCSC Ensembl
chr22:50348343..50353779hg19UCSC Ensembl
Innerchr22:50348365..50353758hg19UCSC Ensembl
Outerchr22:50348322..50353801hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385437
hg195437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16461752
SamplesNA18616
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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