A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620409



Internal ID7007280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37502440..37514479hg38UCSC Ensembl
chr9:37502437..37514476hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3812040
hg1912040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13463043, essv13463042, essv13463010, essv13463029, essv13463017, essv13463033, essv13463028, essv13463019, essv13463035, essv13463021, essv13463024, essv13463037, essv13463041, essv13463031, essv13463022, essv13463009, essv13463036, essv13463025, essv13463012, essv13463038, essv13463039, essv13463032, essv13463030, essv13463014, essv13463027, essv13463034, essv13463040, essv13463023, essv13463026, essv13463020, essv13463015, essv13463018, essv13463013, essv13463044, essv13463016, essv13463011
SamplesNA18592, NA18641, HG01806, HG03926, HG02050, HG02394, HG02384, HG00879, HG02153, NA18960, HG01840, HG00451, HG02138, NA19007, HG00657, HG00583, HG01796, HG00708, NA18573, HG02494, HG00684, NA18553, HG04176, NA18541, HG00407, NA18542, HG01597, NA18543, HG00625, HG01878, HG00620, HG02128, HG02032, HG01872, HG00978, NA18620
Known GenesFBXO10, POLR1E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620409
Frequency
Sample Size2504
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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