A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16492799



Internal ID19009673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73809320..73809320hg38UCSC Ensembl
chrX:73029155..73029155hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3670660
Supporting Variants
Samples
Known GenesTSIX
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)essv16492799
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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