A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3656513



Internal ID19374521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:64109039..64109039hg38UCSC Ensembl
chr15:64401238..64401238hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16480066
Samples
Known GenesSNX1
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)esv3656513
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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