A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3651879



Internal ID19369887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:84223487..84223487hg38UCSC Ensembl
chr10:85983243..85983243hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16475895
Samples
Known GenesLRIT2
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)esv3651879
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer