A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559497



Internal ID18413887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153542049..153542120hg38UCSC Ensembl
chrX:152807507..152807578hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758244
Samples
Known GenesATP2B3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559497
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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