A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14769338



Internal ID5606060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:63399564..63413746hg38UCSC Ensembl
Innerchr13:63399595..63413715hg38UCSC Ensembl
Outerchr13:63399533..63413777hg38UCSC Ensembl
chr13:63973697..63987879hg19UCSC Ensembl
Innerchr13:63973728..63987848hg19UCSC Ensembl
Outerchr13:63973666..63987910hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg3814183
hg1914183
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632405
Supporting Variants
SamplesNA19037
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14769338
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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