A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3652318



Internal ID19370326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10362057..10362139hg38UCSC Ensembl
chr18:10362054..10362136hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16464600
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)esv3652318
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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