A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662046



Internal ID19380054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32429209..32429209hg38UCSC Ensembl
chrX:32447326..32447326hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485045
Samples
Known GenesDMD
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)esv3662046
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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