A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16371294



Internal ID6373110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22031460..22245870hg38UCSC Ensembl
Innerchr22:22031460..22245870hg38UCSC Ensembl
Outerchr22:22031179..22245946hg38UCSC Ensembl
chr22:22385858..22600282hg19UCSC Ensembl
Innerchr22:22385858..22600282hg19UCSC Ensembl
Outerchr22:22385577..22600358hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38214411
hg19214425
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647335
Supporting Variants
SamplesNA12827
Known GenesVPREB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16371294
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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