A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14834171



Internal ID6490568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87173962..87179362hg38UCSC Ensembl
Innerchr13:87173993..87179332hg38UCSC Ensembl
Outerchr13:87173932..87179393hg38UCSC Ensembl
chr13:87826217..87831617hg19UCSC Ensembl
Innerchr13:87826248..87831587hg19UCSC Ensembl
Outerchr13:87826187..87831648hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633033
Supporting Variants
SamplesNA20529
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14834171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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