A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407218



Internal ID14907494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49578505..49604003hg38UCSC Ensembl
InnerchrX:49579505..49603003hg38UCSC Ensembl
OuterchrX:49577505..49605003hg38UCSC Ensembl
chrX:49343108..49368606hg19UCSC Ensembl
InnerchrX:49344108..49367606hg19UCSC Ensembl
OuterchrX:49342108..49369606hg19UCSC Ensembl
chrX:49230052..49255550hg18UCSC Ensembl
InnerchrX:49231052..49254550hg18UCSC Ensembl
OuterchrX:49229052..49256550hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3825499
hg1925499
hg1825499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697604
SamplesNA19238
Known GenesGAGE1, GAGE12C, GAGE12D, GAGE12E, GAGE12H, GAGE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407218
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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