A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14806499



Internal ID5081968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78628868..78634405hg38UCSC Ensembl
Innerchr13:78628868..78634405hg38UCSC Ensembl
Outerchr13:78628500..78634725hg38UCSC Ensembl
chr13:79203003..79208540hg19UCSC Ensembl
Innerchr13:79203003..79208540hg19UCSC Ensembl
Outerchr13:79202635..79208860hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385538
hg195538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632802
Supporting Variants
SamplesNA18544
Known GenesRNF219
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14806499
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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