A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671674



Internal ID19389682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132613594..132613596hg38UCSC Ensembl
chr5:131949286..131949288hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383
hg193
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16493710
Samples
Known GenesRAD50
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)esv3671674
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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