A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14829159



Internal ID4090235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:86323265..86324410hg38UCSC Ensembl
Innerchr13:86323265..86324410hg38UCSC Ensembl
Outerchr13:86322955..86324628hg38UCSC Ensembl
chr13:86975520..86976665hg19UCSC Ensembl
Innerchr13:86975520..86976665hg19UCSC Ensembl
Outerchr13:86975210..86976883hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633007
Supporting Variants
SamplesHG03716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14829159
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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