A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662738



Internal ID19380746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135576327..135576327hg38UCSC Ensembl
chrX:134710252..134710252hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485668
Samples
Known GenesDDX26B
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)esv3662738
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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