A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408787



Internal ID14909062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49336636..49338634hg38UCSC Ensembl
InnerchrX:49337636..49338134hg38UCSC Ensembl
chrX:49202608..49205106hg19UCSC Ensembl
InnerchrX:49203608..49204106hg19UCSC Ensembl
OuterchrX:49201608..49206106hg19UCSC Ensembl
chrX:49089552..49092050hg18UCSC Ensembl
InnerchrX:49090552..49091050hg18UCSC Ensembl
OuterchrX:49088552..49093050hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381999
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697581
SamplesNA19239
Known GenesGAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408787
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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