A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658981



Internal ID9925086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109330374..109332063hg38UCSC Ensembl
chrX:108573603..108575292hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg381690
hg191690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5503837, essv6008164, essv6585015, essv5482467, essv5469993, essv6011069, essv5841128, essv6167297, essv5615983, essv5433410, essv5875599
SamplesNA19397, NA19313, NA18867, NA19451, NA19462, NA19712, NA19331, NA19439, HG01342, NA19472, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658981
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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