A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675202



Internal ID19393210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2454349..2454571hg38UCSC Ensembl
chr5:2454463..2454685hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16496886
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)esv3675202
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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