A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309762



Internal ID15156713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:27813253..27813254hg38UCSC Ensembl
InnerchrX:27813236..27813271hg38UCSC Ensembl
OuterchrX:27813235..27813272hg38UCSC Ensembl
chrX:27831370..27831371hg19UCSC Ensembl
InnerchrX:27831353..27831388hg19UCSC Ensembl
OuterchrX:27831352..27831389hg19UCSC Ensembl
chrX:27741291..27741292hg18UCSC Ensembl
InnerchrX:27741309..27741274hg18UCSC Ensembl
OuterchrX:27741273..27741310hg18UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840335, essv7842455, essv7843255, essv7840775, essv7841957
SamplesNA12891, NA19238, NA19239, NA12878, NA19240
Known GenesMAGEB10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309762
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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