A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662728



Internal ID19034050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134586839..134586839hg38UCSC Ensembl
chrX:133720869..133720869hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485659
Samples
Known GenesPLAC1
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)esv3662728
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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