A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866317



Internal ID13229132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149402771..149402800hg38UCSC Ensembl
InnerchrX:149402775..149402795hg38UCSC Ensembl
OuterchrX:149402766..149402805hg38UCSC Ensembl
chrX:148484302..148484331hg19UCSC Ensembl
InnerchrX:148484306..148484326hg19UCSC Ensembl
OuterchrX:148484297..148484336hg19UCSC Ensembl
chrX:148292038..148292068hg18UCSC Ensembl
InnerchrX:148292043..148292063hg18UCSC Ensembl
OuterchrX:148292033..148292073hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363740
Supporting Variants
SamplesNA11992
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866317
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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