A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3688759



Internal ID19060081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40288421..40288590hg38UCSC Ensembl
chr17:38444673..38444842hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16464267
Samples
Known GenesCDC6
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)esv3688759
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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