A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16413542



Internal ID6415358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36137690..36164506hg38UCSC Ensembl
Innerchr22:36137690..36164506hg38UCSC Ensembl
Outerchr22:36137190..36165006hg38UCSC Ensembl
chr22:36533738..36560554hg19UCSC Ensembl
Innerchr22:36533738..36560554hg19UCSC Ensembl
Outerchr22:36533238..36561054hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3826817
hg1926817
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647677
Supporting Variants
SamplesHG00253
Known GenesAPOL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16413542
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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