A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593189



Internal ID6980513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162970009..163022670hg38UCSC Ensembl
chr2:163826519..163879180hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3852662
hg1952662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10744683, essv10744685, essv10744684
SamplesNA19355, NA18853, NA19316
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593189
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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