A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623190



Internal ID6663358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45901586..45995693hg38UCSC Ensembl
chr10:51600129..51694240hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3894108
hg1994112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e214
Supporting Variantsessv13802418, essv13802432, essv13802426, essv13802424, essv13802430, essv13802425, essv13802437, essv13802434, essv13802435, essv13802421, essv13802431, essv13802427, essv13802423, essv13802438, essv13802422, essv13802436, essv13802429, essv13802433, essv13802420, essv13802428, essv13802419
SamplesHG03052, HG02476, NA18510, HG03135, HG02595, HG02573, NA18868, HG03045, NA19210, HG03054, HG02554, HG02757, NA19655, HG03571, HG02666, HG02675, HG02330, NA19759, HG03097, HG03410, HG02861
Known GenesTIMM23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623190
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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