A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434123



Internal ID14934391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49534672..49535170hg38UCSC Ensembl
InnerchrX:49534671..49535171hg38UCSC Ensembl
OuterchrX:49533996..49536192hg38UCSC Ensembl
chrX:49209608..49210106hg19UCSC Ensembl
InnerchrX:49209607..49210107hg19UCSC Ensembl
OuterchrX:49208608..49211106hg19UCSC Ensembl
chrX:49096552..49097050hg18UCSC Ensembl
InnerchrX:49097051..49096551hg18UCSC Ensembl
OuterchrX:49095552..49098050hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697583
SamplesNA19239
Known GenesGAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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