A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677066



Internal ID9596485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135123692..135125464hg38UCSC Ensembl
chr3:134842534..134844306hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381773
hg191773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5947211, essv5902540, essv6093675, essv5458961, essv6512803, essv6334931, essv5499253, essv6354741, essv5683382, essv5740852, essv5835251, essv5751234, essv5592623, essv5973125, essv5700963, essv6431846, essv6015474, essv6542601, essv6117154, essv5799093, essv6457949, essv5567752, essv6248227, essv5919408, essv6322860
SamplesNA19445, NA18861, NA19904, HG01072, NA18874, NA19401, HG00736, HG01079, NA19319, NA18516, NA19359, HG01051, NA19453, NA19338, NA19210, NA19428, NA19256, NA19457, NA19313, NA19377, NA19394, NA19403, NA19431, NA19916, NA19439
Known GenesEPHB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677066
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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