A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559253



Internal ID18760329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119898545..119898898hg38UCSC Ensembl
OuterchrX:119898521..119898922hg38UCSC Ensembl
InnerchrX:119032508..119032861hg19UCSC Ensembl
OuterchrX:119032484..119032885hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758000
Samples
Known GenesAKAP14
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559253
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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