A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14801575



Internal ID966494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77813271..77813881hg38UCSC Ensembl
Innerchr13:77813294..77813858hg38UCSC Ensembl
Outerchr13:77813248..77813904hg38UCSC Ensembl
chr13:78387406..78388016hg19UCSC Ensembl
Innerchr13:78387429..78387993hg19UCSC Ensembl
Outerchr13:78387383..78388039hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632783
Supporting Variants
SamplesHG00595
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14801575
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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