A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630200



Internal ID7017019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83956494..84063014hg38UCSC Ensembl
chr12:84350273..84456793hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38106521
hg19106521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14553275
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630200
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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