A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309198



Internal ID15156147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:117704879..117704880hg38UCSC Ensembl
InnerchrX:117704863..117704896hg38UCSC Ensembl
OuterchrX:117704862..117704897hg38UCSC Ensembl
chrX:116838842..116838843hg19UCSC Ensembl
InnerchrX:116838826..116838859hg19UCSC Ensembl
OuterchrX:116838825..116838860hg19UCSC Ensembl
chrX:116722870..116722871hg18UCSC Ensembl
InnerchrX:116722887..116722854hg18UCSC Ensembl
OuterchrX:116722853..116722888hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38312
hg19312
hg18312
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842036, essv7842690
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309198
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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