A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16360543



Internal ID6362359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17584572..17586555hg38UCSC Ensembl
Innerchr22:17584641..17586487hg38UCSC Ensembl
Outerchr22:17584504..17586624hg38UCSC Ensembl
chr22:18067338..18069321hg19UCSC Ensembl
Innerchr22:18067407..18069253hg19UCSC Ensembl
Outerchr22:18067270..18069390hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381984
hg191984
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647226
Supporting Variants
SamplesHG01811
Known GenesSLC25A18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16360543
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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