A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381803



Internal ID14882079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155560507..155560526hg38UCSC Ensembl
InnerchrX:155560503..155560530hg38UCSC Ensembl
OuterchrX:155560484..155560549hg38UCSC Ensembl
chrX:154790168..154790187hg19UCSC Ensembl
InnerchrX:154790164..154790191hg19UCSC Ensembl
OuterchrX:154790145..154790210hg19UCSC Ensembl
chrX:154443362..154443381hg18UCSC Ensembl
InnerchrX:154443385..154443358hg18UCSC Ensembl
OuterchrX:154443339..154443404hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8679493
SamplesNA12878
Known GenesTMLHE
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381803
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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