A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14786111



Internal ID4549490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69480606..69496912hg38UCSC Ensembl
Innerchr13:69480606..69496912hg38UCSC Ensembl
Outerchr13:69480106..69497412hg38UCSC Ensembl
chr13:70054738..70071044hg19UCSC Ensembl
Innerchr13:70054738..70071044hg19UCSC Ensembl
Outerchr13:70054238..70071544hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3816307
hg1916307
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632620
Supporting Variants
SamplesHG04047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14786111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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