A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628326



Internal ID6668469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2888954..2950527hg38UCSC Ensembl
chr12:2998120..3059693hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3861574
hg1961574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14338159
SamplesHG02143
Known GenesRHNO1, TULP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628326
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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