A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16479889



Internal ID18996763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41009000..41009000hg38UCSC Ensembl
chr15:41301198..41301198hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3656316
Supporting Variants
Samples
Known GenesINO80
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)essv16479889
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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