A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675743



Internal ID19393751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138493490..138493560hg38UCSC Ensembl
chr5:137829179..137829249hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16497372
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)esv3675743
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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