A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591645



Internal ID6978973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91929352..92013406hg38UCSC Ensembl
chr2:92117378..92201432hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3884055
hg1984055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10586299, essv10586300, essv10586297, essv10586298
SamplesNA12762, NA20818, HG03692, NA19328
Known GenesACTR3BP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591645
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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