A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632293



Internal ID7019102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59867655..59919439hg38UCSC Ensembl
Innerchr13:59867665..59919429hg38UCSC Ensembl
Outerchr13:59867645..59919449hg38UCSC Ensembl
chr13:60441789..60493573hg19UCSC Ensembl
Innerchr13:60441799..60493563hg19UCSC Ensembl
Outerchr13:60441779..60493583hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3851785
hg1951785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14756377
SamplesNA18595
Known GenesDIAPH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632293
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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