A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343416



Internal ID15190401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19173172..19173174hg38UCSC Ensembl
InnerchrX:19173162..19173184hg38UCSC Ensembl
OuterchrX:19173160..19173186hg38UCSC Ensembl
chrX:19191290..19191292hg19UCSC Ensembl
InnerchrX:19191280..19191302hg19UCSC Ensembl
OuterchrX:19191278..19191304hg19UCSC Ensembl
chrX:19101211..19101213hg18UCSC Ensembl
InnerchrX:19101223..19101201hg18UCSC Ensembl
OuterchrX:19101199..19101225hg18UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866271
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343416
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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