A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16497462



Internal ID19361022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168470519..168470819hg38UCSC Ensembl
chr5:167897524..167897824hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3675843
Supporting Variants
Samples
Known GenesWWC1
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)essv16497462
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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