A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660393



Internal ID9926498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103601765..103603777hg38UCSC Ensembl
chrX:102856693..102858705hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5426083, essv6314936, essv5733858, essv6039105, essv5980915, essv6061378, essv5435188, essv5581619
SamplesNA18486, NA19377, HG01366, HG01170, NA20344, NA18907, NA19469, NA19256
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660393
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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