A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517691



Internal ID4659651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58575399..58992641hg38UCSC Ensembl
chr2:58802534..59219776hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38417243
hg19417243
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590964
Supporting Variants
SamplesHG04186
Known GenesLINC01122
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517691
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