A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628322



Internal ID6668465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2796908..2837171hg38UCSC Ensembl
chr12:2906074..2946337hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3840264
hg1940264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337524
SamplesHG02143
Known GenesFKBP4, ITFG2, LOC100507424, NRIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628322
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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