A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3679716



Internal ID19051038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119142546..119142737hg38UCSC Ensembl
chr10:120902058..120902249hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16500949
Samples
Known GenesSFXN4
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)esv3679716
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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