A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3681110



Internal ID19399118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231167319..231167626hg38UCSC Ensembl
chr1:231303065..231303372hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16502203
Samples
Known GenesTRIM67
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)esv3681110
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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