A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302636



Internal ID15149584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147231716..147231780hg38UCSC Ensembl
InnerchrX:147231748..147231748hg38UCSC Ensembl
OuterchrX:147231616..147231880hg38UCSC Ensembl
chrX:146313234..146313298hg19UCSC Ensembl
InnerchrX:146313266..146313266hg19UCSC Ensembl
OuterchrX:146313134..146313398hg19UCSC Ensembl
chrX:146120926..146120990hg18UCSC Ensembl
InnerchrX:146120958..146120958hg18UCSC Ensembl
OuterchrX:146120826..146121090hg18UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731521
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302636
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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