A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16433314



Internal ID4353016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42771719..42780852hg38UCSC Ensembl
Innerchr22:42772219..42780352hg38UCSC Ensembl
Outerchr22:42770719..42781852hg38UCSC Ensembl
chr22:43167725..43176858hg19UCSC Ensembl
Innerchr22:43168225..43176358hg19UCSC Ensembl
Outerchr22:43166725..43177858hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg389134
hg199134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647842
Supporting Variants
SamplesHG03888
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16433314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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