A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14818149



Internal ID5346638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:81792741..81821734hg38UCSC Ensembl
Innerchr13:81792741..81821734hg38UCSC Ensembl
Outerchr13:81792241..81822234hg38UCSC Ensembl
chr13:82366876..82395869hg19UCSC Ensembl
Innerchr13:82366876..82395869hg19UCSC Ensembl
Outerchr13:82366376..82396369hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3828994
hg1928994
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632874
Supporting Variants
SamplesNA18878
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14818149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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