A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558742



Internal ID18759818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:29718567..29720663hg38UCSC Ensembl
OuterchrX:29718538..29720688hg38UCSC Ensembl
InnerchrX:29736684..29738780hg19UCSC Ensembl
OuterchrX:29736655..29738805hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg382151
hg192151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757489
Samples
Known GenesIL1RAPL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558742
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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