A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559384



Internal ID18760460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:138899683..138900037hg38UCSC Ensembl
OuterchrX:138899680..138900040hg38UCSC Ensembl
InnerchrX:137981845..137982199hg19UCSC Ensembl
OuterchrX:137981842..137982202hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758131
Samples
Known GenesFGF13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559384
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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