A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558978



Internal ID18413368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:73953070..73957004hg38UCSC Ensembl
OuterchrX:73952666..73957165hg38UCSC Ensembl
InnerchrX:73172905..73176839hg19UCSC Ensembl
OuterchrX:73172501..73177000hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757725
Samples
Known GenesJPX
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558978
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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