A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323437



Internal ID15170412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:98573823..98573902hg38UCSC Ensembl
InnerchrX:98573819..98573906hg38UCSC Ensembl
OuterchrX:98573740..98573985hg38UCSC Ensembl
chrX:97828821..97828900hg19UCSC Ensembl
InnerchrX:97828817..97828904hg19UCSC Ensembl
OuterchrX:97828738..97828983hg19UCSC Ensembl
chrX:97715477..97715556hg18UCSC Ensembl
InnerchrX:97715560..97715473hg18UCSC Ensembl
OuterchrX:97715394..97715639hg18UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8978475, essv8978477, essv8978464, essv8978471, essv8978466, essv8978473, essv8978476, essv8978465, essv8978472, essv8978474, essv8978468, essv8978478, essv8978469, essv8978480, essv8978467, essv8978479
SamplesNA18861, NA18507, NA18550, NA18916, NA07347, NA12156, NA18951, NA18948, NA19114, NA18499, NA19225, NA18576, NA11881, NA19108, NA18517, NA18943
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323437
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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