A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559518



Internal ID18413908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155552340..155557491hg38UCSC Ensembl
OuterchrX:155552011..155558019hg38UCSC Ensembl
InnerchrX:154782001..154787152hg19UCSC Ensembl
OuterchrX:154781672..154787680hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386009
hg196009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758265
Samples
Known GenesTMLHE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559518
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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