A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005511



Internal ID6717631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73941104..73966080hg38UCSC Ensembl
OuterchrX:73160939..73185915hg19UCSC Ensembl
OuterchrX:73077664..73102640hg18UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3811795
hg1911795
hg1811795
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563471
SamplesHuRef
Known GenesJPX
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005511
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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