A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3678044



Internal ID19049366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27650991..27651071hg38UCSC Ensembl
chr8:27508508..27508588hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16499443
Samples
Known GenesSCARA3
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)esv3678044
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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