A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625054



Internal ID6665207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133534531..133564756hg38UCSC Ensembl
chr10:135348035..135378260hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3830226
hg1930226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv174e214
Supporting Variantsessv13984946, essv13984949, essv13984948, essv13984950, essv13984951, essv13984945, essv13984954, essv13984952, essv13984947, essv13984953, essv13984955
SamplesHG03640, NA19088, NA20291, HG02075, HG01142, NA19309, NA18501, HG03432, NA18631, HG02053, HG03882
Known GenesCYP2E1, SYCE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625054
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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