A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16476860



Internal ID19340420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168746613..168746709hg38UCSC Ensembl
chr5:168173618..168173714hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3652951
Supporting Variants
Samples
Known GenesSLIT3
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)essv16476860
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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