A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16370129



Internal ID1006952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20274867..20312239hg38UCSC Ensembl
chr22:20262390..20299762hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3837373
hg1937373
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647290
Supporting Variants
SamplesHG00629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16370129
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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