A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7840775



Internal ID13699115
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 StatusS
Merged Variantsesv3309762
Supporting Variants
SamplesNA12891
Known GenesMAGEB10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7840775
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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