A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410127



Internal ID4411943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22364749..22403405hg38UCSC Ensembl
chr12:22517683..22556339hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3838657
hg1938657
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628833
Supporting Variants
SamplesHG03235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410127
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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