A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662221



Internal ID19380229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54267026..54267026hg38UCSC Ensembl
chrX:54293459..54293459hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485202
Samples
Known GenesWNK3
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)esv3662221
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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