A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670519



Internal ID9589938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44717343..44718346hg38UCSC Ensembl
chr22:45113223..45114226hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5619760, essv6312580, essv6137178, essv5843133, essv5618718, essv5580129, essv5450695, essv5992896, essv5554763, essv5732164, essv5426323, essv5838226, essv6177919, essv5534732, essv5732888, essv6274053, essv5681384, essv6486752, essv6127216, essv5468453, essv6062406, essv6317993, essv6038361, essv6220859, essv5440543, essv6192433, essv5534431, essv6244342, essv6339228, essv5729598, essv5876667, essv6402593, essv5484696, essv6382131, essv5926079, essv6488352, essv6173619
SamplesNA20588, NA20766, HG01052, NA20531, NA19684, NA12400, NA12399, HG00693, NA20798, NA20795, NA19651, NA06984, HG00338, NA18985, HG00264, HG00154, NA18538, NA19717, NA19236, NA18910, HG01073, NA19655, NA18532, HG00117, HG00146, NA19675, NA19835, NA20792, HG00116, NA20516, NA06986, NA20582, HG00123, NA19213, NA18989, NA19004, NA19346
Known GenesPRR5, PRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670519
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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