A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559240



Internal ID18413630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:118717767..118780921hg38UCSC Ensembl
OuterchrX:118717538..118781594hg38UCSC Ensembl
InnerchrX:117851730..117914884hg19UCSC Ensembl
OuterchrX:117851501..117915557hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3864057
hg1964057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757987
Samples
Known GenesIL13RA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559240
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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