A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302773



Internal ID15149721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30283108..30291580hg38UCSC Ensembl
InnerchrX:30283208..30291480hg38UCSC Ensembl
OuterchrX:30283008..30291680hg38UCSC Ensembl
chrX:30301225..30309697hg19UCSC Ensembl
InnerchrX:30301325..30309597hg19UCSC Ensembl
OuterchrX:30301125..30309797hg19UCSC Ensembl
chrX:30211146..30219618hg18UCSC Ensembl
InnerchrX:30211246..30219518hg18UCSC Ensembl
OuterchrX:30211046..30219718hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg388473
hg198473
hg188473
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736054, essv7733652, essv7733074
SamplesNA18523, NA18501, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302773
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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