A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392575



Internal ID15239540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49596005..49599603hg38UCSC Ensembl
InnerchrX:49597005..49598603hg38UCSC Ensembl
OuterchrX:49595005..49600603hg38UCSC Ensembl
chrX:49360608..49364206hg19UCSC Ensembl
InnerchrX:49361608..49363206hg19UCSC Ensembl
OuterchrX:49359608..49365206hg19UCSC Ensembl
chrX:49247552..49251150hg18UCSC Ensembl
InnerchrX:49248552..49250150hg18UCSC Ensembl
OuterchrX:49246552..49252150hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697607
SamplesNA19239
Known GenesGAGE1, GAGE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392575
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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