A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14450328



Internal ID3302268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39160643..39193190hg38UCSC Ensembl
chr12:39554445..39586992hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3832548
hg1932548
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629254
Supporting Variants
SamplesHG02943
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14450328
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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