A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16473616



Internal ID18990490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39959114..39959114hg38UCSC Ensembl
chr8:39816633..39816633hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3649348
Supporting Variants
Samples
Known GenesIDO2
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)essv16473616
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