A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741377



Internal ID13643934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68653357..68653378hg38UCSC Ensembl
InnerchrX:68653356..68653379hg38UCSC Ensembl
OuterchrX:68653307..68653428hg38UCSC Ensembl
chrX:67873199..67873220hg19UCSC Ensembl
InnerchrX:67873198..67873221hg19UCSC Ensembl
OuterchrX:67873149..67873270hg19UCSC Ensembl
chrX:67789924..67789945hg18UCSC Ensembl
InnerchrX:67789946..67789923hg18UCSC Ensembl
OuterchrX:67789874..67789995hg18UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38226
hg19226
hg18226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3432313
Supporting Variants
SamplesNA12878
Known GenesSTARD8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741377
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