A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14535428



Internal ID4247449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74014370..74072583hg38UCSC Ensembl
chr12:74408150..74466363hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3858214
hg1958214
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629978
Supporting Variants
SamplesHG03817
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14535428
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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