A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7742683



Internal ID14665277
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 StatusS
Merged Variantsesv3306293
Supporting Variants
SamplesNA18964
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7742683
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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