A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558553



Internal ID18412943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3643600..3643720hg38UCSC Ensembl
OuterchrX:3643595..3643726hg38UCSC Ensembl
InnerchrX:3561641..3561761hg19UCSC Ensembl
OuterchrX:3561636..3561767hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757300
Samples
Known GenesPRKX
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558553
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