A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3650769



Internal ID19368777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109177787..109177787hg38UCSC Ensembl
chr9:111940067..111940067hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16474896
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)esv3650769
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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