A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9681546



Internal ID13420351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48460530..48460549hg38UCSC Ensembl
InnerchrX:48460526..48460553hg38UCSC Ensembl
OuterchrX:48460507..48460572hg38UCSC Ensembl
chrX:48318916..48318935hg19UCSC Ensembl
InnerchrX:48318912..48318939hg19UCSC Ensembl
OuterchrX:48318893..48318958hg19UCSC Ensembl
chrX:48203860..48203879hg18UCSC Ensembl
InnerchrX:48203883..48203856hg18UCSC Ensembl
OuterchrX:48203837..48203902hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340506
Supporting Variants
SamplesNA12234
Known GenesSLC38A5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9681546
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