A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16481913



Internal ID19345473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76267667..76267667hg38UCSC Ensembl
chr17:74263748..74263748hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3658566
Supporting Variants
Samples
Known GenesUBALD2
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)essv16481913
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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