A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10680824



Internal ID4495742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133757151..133780274hg38UCSC Ensembl
chr2:134514722..134537845hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3823124
hg1923124
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592538
Supporting Variants
SamplesHG03998
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10680824
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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