A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303298



Internal ID15150246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22346962..22346963hg38UCSC Ensembl
InnerchrX:22346924..22347001hg38UCSC Ensembl
OuterchrX:22346923..22347002hg38UCSC Ensembl
chrX:22365079..22365080hg19UCSC Ensembl
InnerchrX:22365041..22365118hg19UCSC Ensembl
OuterchrX:22365040..22365119hg19UCSC Ensembl
chrX:22275000..22275001hg18UCSC Ensembl
InnerchrX:22275039..22274962hg18UCSC Ensembl
OuterchrX:22274961..22275040hg18UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38119
hg19119
hg18119
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744918, essv7747275, essv7741425, essv7756948, essv7744155, essv7753888, essv7756715, essv7742009, essv7748695
SamplesNA11995, NA18510, NA18550, NA18605, NA18956, NA18871, NA18576, NA18564, NA18552
Known GenesLOC100873065
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303298
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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