A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16501911



Internal ID19018785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66680862..66680996hg38UCSC Ensembl
chr8:67593097..67593231hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3680786
Supporting Variants
Samples
Known GenesC8orf44, C8orf44-SGK3
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)essv16501911
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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