A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10505321



Internal ID5982832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52442961..52521224hg38UCSC Ensembl
chr2:52670099..52748362hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3878264
hg1978264
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590786
Supporting Variants
SamplesNA19390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10505321
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