A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435089



Internal ID14935357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49528705..49576103hg38UCSC Ensembl
InnerchrX:49529705..49575103hg38UCSC Ensembl
OuterchrX:49528395..49577103hg38UCSC Ensembl
chrX:49293308..49340706hg19UCSC Ensembl
InnerchrX:49294308..49339706hg19UCSC Ensembl
OuterchrX:49292998..49341706hg19UCSC Ensembl
chrX:49180252..49227650hg18UCSC Ensembl
InnerchrX:49181252..49226650hg18UCSC Ensembl
OuterchrX:49179252..49228650hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3847399
hg1947399
hg1847399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697594
SamplesNA19238
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2C, GAGE2E, GAGE6, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435089
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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