A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597175



Internal ID6637445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100604090..100718495hg38UCSC Ensembl
chr3:100322934..100437339hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38114406
hg19114406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv917e214
Supporting Variantsessv11085801, essv11085791, essv11085785, essv11085795, essv11085807, essv11085799, essv11085790, essv11085784, essv11085806, essv11085797, essv11085794, essv11085792, essv11085788, essv11085783, essv11085786, essv11085800, essv11085802, essv11085805, essv11085796, essv11085787, essv11085789, essv11085803, essv11085793, essv11085782, essv11085804, essv11085798
SamplesHG01348, HG01066, HG01531, HG01522, HG01140, HG01702, HG01676, HG04042, HG01492, HG00736, HG01761, HG01083, HG01110, HG02224, HG01121, HG01603, HG01512, HG01334, HG01679, HG00258, NA20801, NA20527, HG01620, HG02239, NA19726, NA19758
Known GenesGPR128, TFG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597175
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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