A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3681679



Internal ID19399687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99463073..99463214hg38UCSC Ensembl
chr13:100115327..100115468hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16502715
Samples
Known Genes
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)esv3681679
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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