A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619130



Internal ID6659322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144500159..144504908hg38UCSC Ensembl
chr8:145725542..145730291hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384750
hg194750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13369058, essv13369060, essv13369078, essv13369057, essv13369051, essv13369061, essv13369052, essv13369079, essv13369056, essv13369068, essv13369076, essv13369071, essv13369048, essv13369072, essv13369066, essv13369062, essv13369077, essv13369073, essv13369055, essv13369074, essv13369054, essv13369050, essv13369053, essv13369065, essv13369075, essv13369070, essv13369049, essv13369067, essv13369047, essv13369059, essv13369069, essv13369064, essv13369063
SamplesHG02140, HG00536, HG01700, HG01046, HG01277, HG01624, HG01915, HG02146, HG01860, HG02081, NA18979, HG00421, HG02090, HG00451, HG01986, NA19213, NA18640, HG02285, HG00383, HG02278, NA19901, NA18748, HG01923, HG01702, HG02084, HG00445, NA19921, HG01345, HG00378, HG02286, NA18574, HG00345, HG00128
Known GenesGPT, PPP1R16A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619130
Frequency
Sample Size2504
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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