A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598739



Internal ID6985874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175191480..175192626hg38UCSC Ensembl
Innerchr3:175191480..175192626hg38UCSC Ensembl
Outerchr3:175191130..175192885hg38UCSC Ensembl
chr3:174909270..174910416hg19UCSC Ensembl
Innerchr3:174909270..174910416hg19UCSC Ensembl
Outerchr3:174908920..174910675hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11232287, essv11232285, essv11232284, essv11232288, essv11232282, essv11232286, essv11232283
SamplesHG02688, HG04038, HG04206, HG04042, HG04152, HG04093, HG03925
Known GenesNAALADL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598739
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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