A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7754008



Internal ID14342332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64220889..64220890hg38UCSC Ensembl
InnerchrX:64220836..64220943hg38UCSC Ensembl
OuterchrX:64220835..64220944hg38UCSC Ensembl
chrX:63440769..63440770hg19UCSC Ensembl
InnerchrX:63440716..63440823hg19UCSC Ensembl
OuterchrX:63440715..63440824hg19UCSC Ensembl
chrX:63357494..63357495hg18UCSC Ensembl
InnerchrX:63357548..63357441hg18UCSC Ensembl
OuterchrX:63357440..63357549hg18UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305011
Supporting Variants
SamplesNA18853
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7754008
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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