A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10815891



Internal ID6477698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197893560..197896855hg38UCSC Ensembl
chr2:198758284..198761579hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383296
hg193296
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593914
Supporting Variants
SamplesNA20522
Known GenesPLCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10815891
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