A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373475



Internal ID15220450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:122435448..122435462hg38UCSC Ensembl
InnerchrX:122435441..122435466hg38UCSC Ensembl
OuterchrX:122435427..122435480hg38UCSC Ensembl
chrX:121569301..121569315hg19UCSC Ensembl
InnerchrX:121569294..121569319hg19UCSC Ensembl
OuterchrX:121569280..121569333hg19UCSC Ensembl
chrX:121396982..121396996hg18UCSC Ensembl
InnerchrX:121397000..121396975hg18UCSC Ensembl
OuterchrX:121396961..121397014hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8978907, essv8978905, essv8978919, essv8978916, essv8978913, essv8978914, essv8978908, essv8978912, essv8978906, essv8978902, essv8978901, essv8978920, essv8978911, essv8978899, essv8978898, essv8978917, essv8978918, essv8978903, essv8978921, essv8978910, essv8978900, essv8978909
SamplesNA12717, NA18861, NA18508, NA12751, NA18959, NA18510, NA18940, NA18516, NA18871, NA18572, NA18907, NA18537, NA18912, NA19099, NA19257, NA18858, NA18564, NA19093, NA18609, NA19102, NA19129, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373475
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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