A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10400716



Internal ID4909866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5334998..5366702hg38UCSC Ensembl
chr2:5475131..5506835hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3831705
hg1931705
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589703
Supporting Variants
SamplesNA12748
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10400716
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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