A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14702975



Internal ID3712749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39858473..39865339hg38UCSC Ensembl
Innerchr13:39858473..39865339hg38UCSC Ensembl
Outerchr13:39858395..39865387hg38UCSC Ensembl
chr13:40432610..40439476hg19UCSC Ensembl
Innerchr13:40432610..40439476hg19UCSC Ensembl
Outerchr13:40432532..40439524hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386867
hg196867
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631839
Supporting Variants
SamplesHG03313
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14702975
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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