A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14780498



Internal ID5590185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67373689..67379573hg38UCSC Ensembl
Innerchr13:67373700..67379563hg38UCSC Ensembl
Outerchr13:67373679..67379584hg38UCSC Ensembl
chr13:67947821..67953705hg19UCSC Ensembl
Innerchr13:67947832..67953695hg19UCSC Ensembl
Outerchr13:67947811..67953716hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg385885
hg195885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632545
Supporting Variants
SamplesNA19027
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14780498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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