A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591445



Internal ID6978773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:81399739..81452958hg38UCSC Ensembl
chr2:81626863..81680082hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3853220
hg1953220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10559672
SamplesHG04176
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591445
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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