A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16502718



Internal ID19366278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99729930..99730009hg38UCSC Ensembl
chr13:100382184..100382263hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3681682
Supporting Variants
Samples
Known GenesCLYBL
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)essv16502718
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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