A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10791110



Internal ID864464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186524467..186541140hg38UCSC Ensembl
Innerchr2:186524467..186541140hg38UCSC Ensembl
Outerchr2:186523967..186541640hg38UCSC Ensembl
chr2:187389194..187405867hg19UCSC Ensembl
Innerchr2:187389194..187405867hg19UCSC Ensembl
Outerchr2:187388694..187406367hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3816674
hg1916674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593671
Supporting Variants
SamplesHG00452
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10791110
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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