A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14406298



Internal ID4780822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21663787..21692643hg38UCSC Ensembl
chr12:21816721..21845577hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3828857
hg1928857
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628812
Supporting Variants
SamplesNA11893
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14406298
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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