A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16499577



Internal ID19363137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67206323..67206399hg38UCSC Ensembl
chr8:68118558..68118634hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3678192
Supporting Variants
Samples
Known GenesARFGEF1
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)essv16499577
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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