A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978571



Internal ID14474714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103525106..103525138hg38UCSC Ensembl
InnerchrX:103525117..103525124hg38UCSC Ensembl
OuterchrX:103525085..103525159hg38UCSC Ensembl
chrX:102780034..102780066hg19UCSC Ensembl
InnerchrX:102780045..102780052hg19UCSC Ensembl
OuterchrX:102780013..102780087hg19UCSC Ensembl
chrX:102666690..102666722hg18UCSC Ensembl
InnerchrX:102666708..102666701hg18UCSC Ensembl
OuterchrX:102666669..102666743hg18UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38813
hg19813
hg18813
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426907
Supporting Variants
SamplesNA18942
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978571
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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