A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391924



Internal ID15238889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:122435449..122435468hg38UCSC Ensembl
InnerchrX:122435445..122435472hg38UCSC Ensembl
OuterchrX:122435426..122435491hg38UCSC Ensembl
chrX:121569302..121569321hg19UCSC Ensembl
InnerchrX:121569298..121569325hg19UCSC Ensembl
OuterchrX:121569279..121569344hg19UCSC Ensembl
chrX:121396983..121397002hg18UCSC Ensembl
InnerchrX:121397006..121396979hg18UCSC Ensembl
OuterchrX:121396960..121397025hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9681879
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391924
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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