A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14646866



Internal ID4652304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132051224..132063374hg38UCSC Ensembl
chr12:132535769..132547919hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3812151
hg1912151
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631284
Supporting Variants
SamplesHG04182
Known GenesEP400
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14646866
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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