A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16464808



Internal ID19328368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75067409..75067539hg38UCSC Ensembl
chr18:72779365..72779495hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3654630
Supporting Variants
Samples
Known Genes
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)essv16464808
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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