A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697451



Internal ID13733902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115843263..115889389hg38UCSC Ensembl
InnerchrX:115844263..115888389hg38UCSC Ensembl
OuterchrX:115842263..115890389hg38UCSC Ensembl
chrX:114959596..115005722hg19UCSC Ensembl
InnerchrX:114960596..115004722hg19UCSC Ensembl
OuterchrX:114958596..115006722hg19UCSC Ensembl
chrX:114865852..114919750hg18UCSC Ensembl
InnerchrX:114866852..114918750hg18UCSC Ensembl
OuterchrX:114864852..114920750hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3846127
hg1946127
hg1853899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353697
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697451
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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