A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558531



Internal ID18759607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2447812..2479915hg38UCSC Ensembl
OuterchrX:2447400..2480194hg38UCSC Ensembl
InnerchrX:2365853..2397956hg19UCSC Ensembl
OuterchrX:2365441..2398235hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3832795
hg1932795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757278
Samples
Known GenesDHRSX
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558531
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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