A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629820



Internal ID7016641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67121489..67201173hg38UCSC Ensembl
chr12:67515269..67594953hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3879685
hg1979685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14518691
SamplesHG03595
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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