A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16405316



Internal ID3149173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33113477..33116629hg38UCSC Ensembl
Innerchr22:33113527..33116579hg38UCSC Ensembl
Outerchr22:33113404..33116702hg38UCSC Ensembl
chr22:33509463..33512615hg19UCSC Ensembl
Innerchr22:33509513..33512565hg19UCSC Ensembl
Outerchr22:33509390..33512688hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383153
hg193153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647615
Supporting Variants
SamplesHG02772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16405316
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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