A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3667138



Internal ID19385146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76578872..76578872hg38UCSC Ensembl
chr5:75874697..75874697hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16489628
Samples
Known GenesIQGAP2
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)esv3667138
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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