A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350570



Internal ID15197551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9567612..9569610hg38UCSC Ensembl
InnerchrX:9568610..9568612hg38UCSC Ensembl
OuterchrX:9566612..9570610hg38UCSC Ensembl
chrX:9535652..9537650hg19UCSC Ensembl
InnerchrX:9536650..9536652hg19UCSC Ensembl
OuterchrX:9534652..9538650hg19UCSC Ensembl
chrX:9495652..9497650hg18UCSC Ensembl
InnerchrX:9496652..9496650hg18UCSC Ensembl
OuterchrX:9494652..9498650hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697648
SamplesNA19240
Known GenesTBL1X
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350570
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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