A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592915



Internal ID6633198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151196475..151275371hg38UCSC Ensembl
chr2:152052989..152131885hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3878897
hg1978897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv744e214
Supporting Variantsessv10711146, essv10711147
SamplesNA19355, HG01599
Known GenesNMI, RBM43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592915
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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