A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308493



Internal ID15155442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5863706..5863707hg38UCSC Ensembl
InnerchrX:5863690..5863723hg38UCSC Ensembl
OuterchrX:5863689..5863724hg38UCSC Ensembl
chrX:5781747..5781748hg19UCSC Ensembl
InnerchrX:5781731..5781764hg19UCSC Ensembl
OuterchrX:5781730..5781765hg19UCSC Ensembl
chrX:5791747..5791748hg18UCSC Ensembl
InnerchrX:5791764..5791731hg18UCSC Ensembl
OuterchrX:5791730..5791765hg18UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840276, essv7841150, essv7840645
SamplesNA12891, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308493
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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