A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306293



Internal ID15153241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103525111..103525112hg38UCSC Ensembl
InnerchrX:103525073..103525150hg38UCSC Ensembl
OuterchrX:103525072..103525151hg38UCSC Ensembl
chrX:102780039..102780040hg19UCSC Ensembl
InnerchrX:102780001..102780078hg19UCSC Ensembl
OuterchrX:102780000..102780079hg19UCSC Ensembl
chrX:102666695..102666696hg18UCSC Ensembl
InnerchrX:102666734..102666657hg18UCSC Ensembl
OuterchrX:102666656..102666735hg18UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38828
hg19828
hg18828
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754264, essv7753688, essv7756759, essv7760898, essv7742683, essv7762450, essv7748950
SamplesNA18942, NA18964, NA18973, NA18570, NA18576, NA18952, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306293
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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