A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590786



Internal ID6978114
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10505321
SamplesNA19390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590786
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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