A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782683



Internal ID5909132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68369240..68466526hg38UCSC Ensembl
chr13:68943372..69040658hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3897287
hg1997287
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632592
Supporting Variants
SamplesNA19321
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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