A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16502574



Internal ID19019448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50867274..50867416hg38UCSC Ensembl
chr13:51441410..51441552hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3681522
Supporting Variants
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)essv16502574
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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