A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675485



Internal ID19393493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50287629..50287707hg38UCSC Ensembl
chrX:50030629..50030707hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16466685
Samples
Known GenesCCNB3
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)esv3675485
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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