A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363740



Internal ID15210718
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 StatusM
Merged Variants
Supporting Variantsessv7866317, essv7866318
SamplesNA11992, NA19172
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363740
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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