A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594300



Internal ID6981620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216937927..217043218hg38UCSC Ensembl
chr2:217802650..217907941hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38105292
hg19105292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv761e214
Supporting Variantsessv10846431
SamplesNA19055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594300
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