A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674908



Internal ID19046230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:25014083..25014194hg38UCSC Ensembl
chrX:25032200..25032311hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16466633
Samples
Known GenesARX
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)esv3674908
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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