A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594301



Internal ID6981621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216938395..217040849hg38UCSC Ensembl
Innerchr2:216938545..217040699hg38UCSC Ensembl
Outerchr2:216938245..217040999hg38UCSC Ensembl
chr2:217803118..217905572hg19UCSC Ensembl
Innerchr2:217803268..217905422hg19UCSC Ensembl
Outerchr2:217802968..217905722hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38102455
hg19102455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv761e214
Supporting Variantsessv10846433, essv10846432
SamplesNA19055, NA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594301
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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