A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16490481



Internal ID19354042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92034787..92034787hg38UCSC Ensembl
chr8:93047015..93047015hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3668086
Supporting Variants
Samples
Known GenesRUNX1T1
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)essv16490481
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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