A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336465



Internal ID15183453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:42094263..42094300hg38UCSC Ensembl
InnerchrX:42094208..42094355hg38UCSC Ensembl
OuterchrX:42094171..42094392hg38UCSC Ensembl
chrX:41953516..41953553hg19UCSC Ensembl
InnerchrX:41953461..41953608hg19UCSC Ensembl
OuterchrX:41953424..41953645hg19UCSC Ensembl
chrX:41838460..41838497hg18UCSC Ensembl
InnerchrX:41838552..41838405hg18UCSC Ensembl
OuterchrX:41838368..41838589hg18UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866274
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336465
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer