A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1493190



Internal ID12656312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130090302..130091357hg38UCSC Ensembl
chrX:129224277..129225332hg19UCSC Ensembl
chrX:129051958..129053013hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381056
hg191056
hg181056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3860242
SamplesHuRef
Known GenesELF4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1493190
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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