A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16360546



Internal ID1352913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17596405..17597848hg38UCSC Ensembl
Innerchr22:17596406..17597848hg38UCSC Ensembl
Outerchr22:17596405..17597849hg38UCSC Ensembl
chr22:18079171..18080614hg19UCSC Ensembl
Innerchr22:18079172..18080614hg19UCSC Ensembl
Outerchr22:18079171..18080615hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381444
hg191444
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647227
Supporting Variants
SamplesHG01190
Known GenesATP6V1E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16360546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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