A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629258



Internal ID6669398
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14450374, essv14450373
SamplesHG01853, HG01865
Known GenesKIF21A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629258
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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