A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558992



Internal ID18760068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:76909484..76927075hg38UCSC Ensembl
OuterchrX:76909076..76927575hg38UCSC Ensembl
InnerchrX:76129909..76147500hg19UCSC Ensembl
OuterchrX:76129501..76148000hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3818500
hg1918500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757739
Samples
Known GenesMIR384
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558992
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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