A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303927



Internal ID15150875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111986326..111986327hg38UCSC Ensembl
InnerchrX:111986309..111986344hg38UCSC Ensembl
OuterchrX:111986308..111986345hg38UCSC Ensembl
chrX:111229554..111229555hg19UCSC Ensembl
InnerchrX:111229537..111229572hg19UCSC Ensembl
OuterchrX:111229536..111229573hg19UCSC Ensembl
chrX:111116210..111116211hg18UCSC Ensembl
InnerchrX:111116228..111116193hg18UCSC Ensembl
OuterchrX:111116192..111116229hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386038
hg196038
hg186038
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7809514, essv7806474, essv7789378, essv7824905, essv7782753, essv7815094, essv7827239, essv7826126, essv7782933, essv7801407, essv7771834
SamplesNA12717, NA11995, NA18508, NA11920, NA07346, NA12044, NA12489, NA18573, NA11894, NA12873, NA12776
Known GenesTRPC5
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303927
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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