A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559212



Internal ID18760288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:115594216..115594863hg38UCSC Ensembl
OuterchrX:115594168..115594925hg38UCSC Ensembl
InnerchrX:114828528..114829175hg19UCSC Ensembl
OuterchrX:114828480..114829237hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757959
Samples
Known GenesPLS3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559212
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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