A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14829148



Internal ID6289518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:86153042..86178370hg38UCSC Ensembl
Innerchr13:86153051..86178361hg38UCSC Ensembl
Outerchr13:86153033..86178379hg38UCSC Ensembl
chr13:86727177..86752505hg19UCSC Ensembl
Innerchr13:86727186..86752496hg19UCSC Ensembl
Outerchr13:86727168..86752514hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3825329
hg1925329
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633005
Supporting Variants
SamplesNA19834
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14829148
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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