A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782641



Internal ID6898511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68097647..68117370hg38UCSC Ensembl
Innerchr13:68097647..68117370hg38UCSC Ensembl
Outerchr13:68097147..68117870hg38UCSC Ensembl
chr13:68671779..68691502hg19UCSC Ensembl
Innerchr13:68671779..68691502hg19UCSC Ensembl
Outerchr13:68671279..68692002hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3819724
hg1919724
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632583
Supporting Variants
SamplesNA21108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782641
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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