A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697591



Internal ID14716381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49543950..49544652hg38UCSC Ensembl
chrX:49236808..49239606hg19UCSC Ensembl
InnerchrX:49237808..49238606hg19UCSC Ensembl
OuterchrX:49235808..49240606hg19UCSC Ensembl
chrX:49123752..49126550hg18UCSC Ensembl
InnerchrX:49124752..49125550hg18UCSC Ensembl
OuterchrX:49122752..49127550hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38703
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445396
Supporting Variants
SamplesNA19239
Known GenesGAGE2A, GAGE2B, GAGE2C, GAGE2E, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697591
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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