A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668182



Internal ID9934287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109109985..109114180hg38UCSC Ensembl
chrX:108353215..108357410hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg384196
hg194196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6225257, essv5677190, essv6582361, essv6584402, essv5641516, essv6114944, essv5794555, essv5820401, essv6453285, essv6543327, essv5734813, essv6080787, essv6434606, essv5452310, essv5762661, essv6154648, essv6233826, essv6204896, essv5619431, essv5896118, essv5427163, essv6263335, essv5777842, essv5472264, essv6443581, essv6533779, essv6161330, essv5434821, essv5732400, essv6193479, essv5447474, essv5505101, essv5873771, essv5495470, essv6455737, essv5519946, essv6376706, essv5904540, essv6347240
SamplesHG00151, NA20802, HG00640, HG00244, NA19377, NA12413, NA12341, NA19396, NA11918, NA19457, NA19313, HG00247, NA19782, NA19130, NA18874, NA18867, NA19403, NA19717, NA18907, NA12827, HG00141, HG01107, NA19652, HG00119, NA19712, NA19473, NA19435, NA20790, HG01375, HG01137, HG01108, NA19713, NA19474, NA19102, NA19116, NA19900, HG00372, HG00554, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668182
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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