A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16414543



Internal ID6416359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36239324..36239966hg38UCSC Ensembl
Innerchr22:36239355..36239936hg38UCSC Ensembl
Outerchr22:36239294..36239997hg38UCSC Ensembl
chr22:36635370..36636012hg19UCSC Ensembl
Innerchr22:36635401..36635982hg19UCSC Ensembl
Outerchr22:36635340..36636043hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647683
Supporting Variants
SamplesHG03109
Known GenesAPOL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16414543
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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