A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380090



Internal ID14880363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49340540..49341539hg38UCSC Ensembl
InnerchrX:49340539..49341540hg38UCSC Ensembl
OuterchrX:49339540..49342539hg38UCSC Ensembl
chrX:49216008..49217006hg19UCSC Ensembl
InnerchrX:49216007..49217007hg19UCSC Ensembl
OuterchrX:49215008..49218006hg19UCSC Ensembl
chrX:49102952..49103950hg18UCSC Ensembl
InnerchrX:49103951..49102951hg18UCSC Ensembl
OuterchrX:49101952..49104950hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381000
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697585
SamplesNA19239
Known GenesGAGE12I, GAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE4, GAGE5, GAGE7, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380090
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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