A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16480100



Internal ID18996974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68224265..68224265hg38UCSC Ensembl
chr15:68516603..68516603hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3656550
Supporting Variants
Samples
Known GenesCLN6
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)essv16480100
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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