A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628261



Internal ID6668404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:880274..938296hg38UCSC Ensembl
chr12:989440..1047462hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3858023
hg1958023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14330881
SamplesHG00452
Known GenesRAD52, WNK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628261
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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