A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697587



Internal ID14716379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49545255..49547425hg38UCSC Ensembl
InnerchrX:49545827..49546425hg38UCSC Ensembl
chrX:49219708..49222306hg19UCSC Ensembl
InnerchrX:49220708..49221306hg19UCSC Ensembl
OuterchrX:49218708..49223306hg19UCSC Ensembl
chrX:49106652..49109250hg18UCSC Ensembl
InnerchrX:49107652..49108250hg18UCSC Ensembl
OuterchrX:49105652..49110250hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382171
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451132
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)essv8697587
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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