A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647290



Internal ID7034031
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370129
SamplesHG00629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647290
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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