A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594146



Internal ID6981466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209354795..209406727hg38UCSC Ensembl
chr2:210219519..210271451hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3851933
hg1951933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10834620
SamplesHG02407
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594146
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