A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3661972



Internal ID19379980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17258932..17258932hg38UCSC Ensembl
chrX:17277055..17277055hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16484979
Samples
Known Genes
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)esv3661972
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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