A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393529



Internal ID14893808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49531105..49532703hg38UCSC Ensembl
InnerchrX:49531703..49532105hg38UCSC Ensembl
OuterchrX:49530105..49533703hg38UCSC Ensembl
chrX:49295708..49297306hg19UCSC Ensembl
InnerchrX:49296306..49296708hg19UCSC Ensembl
OuterchrX:49294708..49298306hg19UCSC Ensembl
chrX:49182652..49184250hg18UCSC Ensembl
InnerchrX:49183652..49183250hg18UCSC Ensembl
OuterchrX:49181652..49185250hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697595
SamplesNA19239
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE2E, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393529
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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