A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3650768



Internal ID19368776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109176132..109176132hg38UCSC Ensembl
chr9:111938412..111938412hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16474895
Samples
Known GenesEPB41L4B
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)esv3650768
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