A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10711145



Internal ID712961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151196133..151275493hg38UCSC Ensembl
Innerchr2:151196183..151275443hg38UCSC Ensembl
Outerchr2:151196041..151275585hg38UCSC Ensembl
chr2:152052647..152132007hg19UCSC Ensembl
Innerchr2:152052697..152131957hg19UCSC Ensembl
Outerchr2:152052555..152132099hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3879361
hg1979361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592914
Supporting Variants
SamplesHG01599
Known GenesNMI, RBM43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10711145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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