A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306789



Internal ID15153737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:122435453..122435454hg38UCSC Ensembl
InnerchrX:122435436..122435471hg38UCSC Ensembl
OuterchrX:122435435..122435472hg38UCSC Ensembl
chrX:121569306..121569307hg19UCSC Ensembl
InnerchrX:121569289..121569324hg19UCSC Ensembl
OuterchrX:121569288..121569325hg19UCSC Ensembl
chrX:121396987..121396988hg18UCSC Ensembl
InnerchrX:121397005..121396970hg18UCSC Ensembl
OuterchrX:121396969..121397006hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836480, essv7774909, essv7833000, essv7775301, essv7822259, essv7786497, essv7805940, essv7825602, essv7825935, essv7811228, essv7778882, essv7835800, essv7779646, essv7801097, essv7829150, essv7820373, essv7832480, essv7792394, essv7781356, essv7817712, essv7829764, essv7805418, essv7814213, essv7803600
SamplesNA12717, NA18861, NA18508, NA12751, NA18959, NA18510, NA18940, NA18516, NA18871, NA18572, NA18907, NA18537, NA18912, NA19099, NA19257, NA18858, NA18564, NA12874, NA19143, NA19093, NA18609, NA19102, NA19129, NA18522
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306789
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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