A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659227



Internal ID2892314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120463731..120463957hg38UCSC Ensembl
chrX:119597586..119597812hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5902567, essv5720208, essv5623937, essv5890034, essv5921983, essv6356669, essv5699329, essv5789742, essv6044160, essv6180478, essv5811663, essv6554655, essv6219857, essv6482589, essv6065516, essv5615467, essv5736072, essv6325182, essv6082198, essv5897942, essv6443245, essv5760928, essv6381675, essv6056523, essv6291757, essv5692934, essv5874750, essv5791180, essv6173826, essv5807149, essv5427165, essv6147023, essv6447557, essv5896116, essv6224485, essv6537422, essv5428308, essv6231385, essv5762796, essv5982438
SamplesNA18870, NA19712, NA19404, NA18523, NA19437, NA19114, NA19401, NA18570, NA18516, NA19788, HG01492, NA18517, NA20342, NA18489, HG00335, NA18488, HG00699, HG01375, NA19917, NA18563, NA19066, HG01253, NA19324, NA19129, NA19172, NA19703, HG00501, HG01351, HG00513, NA19707, NA18907, NA19391, NA18602, NA19099, NA19446, HG01390, HG00422, HG00473, HG00531, HG01067
Known GenesLAMP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659227
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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