A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662569



Internal ID19033891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111810156..111810156hg38UCSC Ensembl
chrX:111053384..111053384hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485515
Samples
Known GenesTRPC5
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)esv3662569
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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