A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342357



Internal ID15189342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111986321..111986340hg38UCSC Ensembl
InnerchrX:111986317..111986344hg38UCSC Ensembl
OuterchrX:111986298..111986363hg38UCSC Ensembl
chrX:111229549..111229568hg19UCSC Ensembl
InnerchrX:111229545..111229572hg19UCSC Ensembl
OuterchrX:111229526..111229591hg19UCSC Ensembl
chrX:111116205..111116224hg18UCSC Ensembl
InnerchrX:111116228..111116201hg18UCSC Ensembl
OuterchrX:111116182..111116247hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9681702
SamplesNA12873
Known GenesTRPC5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342357
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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