A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758244



Internal ID18385804
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 StatusS
Merged Variantsesv3559497
Supporting Variants
Samples
Known GenesATP2B3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758244
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer