A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16487327



Internal ID19350887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133470487..133470603hg38UCSC Ensembl
chrX:132604515..132604631hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3664582
Supporting Variants
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)essv16487327
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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