A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568953



Internal ID608890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86054463..86058772hg38UCSC Ensembl
chr2:86281586..86285895hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384310
hg194310
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591537
Supporting Variants
SamplesHG00266
Known GenesPOLR1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568953
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