A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14828469



Internal ID6153940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:86032243..86092314hg38UCSC Ensembl
chr13:86606378..86666449hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3860072
hg1960072
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633000
Supporting Variants
SamplesNA19684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14828469
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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