A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406542



Internal ID15253504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5863705..5863714hg38UCSC Ensembl
InnerchrX:5863698..5863721hg38UCSC Ensembl
OuterchrX:5863689..5863730hg38UCSC Ensembl
chrX:5781746..5781755hg19UCSC Ensembl
InnerchrX:5781739..5781762hg19UCSC Ensembl
OuterchrX:5781730..5781771hg19UCSC Ensembl
chrX:5791746..5791755hg18UCSC Ensembl
InnerchrX:5791762..5791739hg18UCSC Ensembl
OuterchrX:5791730..5791771hg18UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8977910, essv8977928, essv8977921, essv8977917, essv8977923, essv8977920, essv8977919, essv8977924, essv8977909, essv8977911, essv8977916, essv8977927, essv8977925, essv8977929, essv8977922, essv8977912, essv8977914, essv8977913, essv8977918
SamplesNA12717, NA11830, NA18861, NA18563, NA18550, NA07347, NA18520, NA11993, NA12489, NA12003, NA18537, NA12249, NA19099, NA18523, NA18608, NA07051, NA06986, NA18552, NA07000
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406542
Frequency
Sample Size185
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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