A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14450374



Internal ID4452190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39286959..39304994hg38UCSC Ensembl
chr12:39680761..39698796hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3818036
hg1918036
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629258
Supporting Variants
SamplesHG01865
Known GenesKIF21A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14450374
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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