A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559517



Internal ID18413907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155549340..155555339hg38UCSC Ensembl
OuterchrX:155548340..155555616hg38UCSC Ensembl
InnerchrX:154779001..154785000hg19UCSC Ensembl
OuterchrX:154778001..154785277hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg387277
hg197277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758264
Samples
Known GenesTMLHE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559517
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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