A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421211



Internal ID6423027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37960931..37962775hg38UCSC Ensembl
Innerchr22:37960939..37962767hg38UCSC Ensembl
Outerchr22:37960923..37962783hg38UCSC Ensembl
chr22:38356938..38358782hg19UCSC Ensembl
Innerchr22:38356946..38358774hg19UCSC Ensembl
Outerchr22:38356930..38358790hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381845
hg191845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647723
Supporting Variants
SamplesHG01848
Known GenesPOLR2F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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