A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628245



Internal ID6668388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:513907..571080hg38UCSC Ensembl
chr12:623073..680246hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857174
hg1957174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329788, essv14329789, essv14329787
SamplesHG02140, HG03836, NA19403
Known GenesB4GALNT3, NINJ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628245
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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