A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697588



Internal ID14716406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49548062..49549948hg38UCSC Ensembl
InnerchrX:49549062..49549160hg38UCSC Ensembl
OuterchrX:49547034..49551157hg38UCSC Ensembl
chrX:49222908..49225006hg19UCSC Ensembl
InnerchrX:49223908..49224006hg19UCSC Ensembl
OuterchrX:49221908..49226006hg19UCSC Ensembl
chrX:49109852..49111950hg18UCSC Ensembl
InnerchrX:49110852..49110950hg18UCSC Ensembl
OuterchrX:49108852..49112950hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381887
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373509
Supporting Variants
SamplesNA19239
Known GenesGAGE12F, GAGE12I, GAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE4, GAGE5, GAGE7, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697588
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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