A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14873056



Internal ID4874872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99288213..99290950hg38UCSC Ensembl
Innerchr13:99288230..99290934hg38UCSC Ensembl
Outerchr13:99288197..99290967hg38UCSC Ensembl
chr13:99940467..99943204hg19UCSC Ensembl
Innerchr13:99940484..99943188hg19UCSC Ensembl
Outerchr13:99940451..99943221hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382738
hg192738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633327
Supporting Variants
SamplesHG03388
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14873056
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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