A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16413817



Internal ID6415633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36200214..36234114hg38UCSC Ensembl
Innerchr22:36200714..36233614hg38UCSC Ensembl
Outerchr22:36199214..36235114hg38UCSC Ensembl
chr22:36596260..36630160hg19UCSC Ensembl
Innerchr22:36596760..36629660hg19UCSC Ensembl
Outerchr22:36595260..36631160hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3833901
hg1933901
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647680
Supporting Variants
SamplesHG02786
Known GenesAPOL2, APOL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16413817
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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