A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7742238



Internal ID13879366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49647180..49647181hg38UCSC Ensembl
InnerchrX:49647152..49647209hg38UCSC Ensembl
OuterchrX:49647151..49647210hg38UCSC Ensembl
chrX:49411783..49411784hg19UCSC Ensembl
InnerchrX:49411755..49411812hg19UCSC Ensembl
OuterchrX:49411754..49411813hg19UCSC Ensembl
chrX:49298739..49298740hg18UCSC Ensembl
InnerchrX:49298768..49298711hg18UCSC Ensembl
OuterchrX:49298710..49298769hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306449
Supporting Variants
SamplesNA18519
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7742238
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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