A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621409



Internal ID4623225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122263863..122274137hg38UCSC Ensembl
chr12:122748410..122758684hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810275
hg1910275
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630973
Supporting Variants
SamplesNA20808
Known GenesCLIP1, VPS33A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621409
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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