A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10798745



Internal ID6367301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190124560..190129709hg38UCSC Ensembl
Innerchr2:190124646..190129659hg38UCSC Ensembl
Outerchr2:190124469..190129800hg38UCSC Ensembl
chr2:190989286..190994435hg19UCSC Ensembl
Innerchr2:190989372..190994385hg19UCSC Ensembl
Outerchr2:190989195..190994526hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg385150
hg195150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593749
Supporting Variants
SamplesNA20298
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10798745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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