A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16485036



Internal ID19001910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30662208..30662208hg38UCSC Ensembl
chrX:30680325..30680325hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3662036
Supporting Variants
Samples
Known GenesGK
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)essv16485036
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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