A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630370



Internal ID7017189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91986297..92030955hg38UCSC Ensembl
chr12:92380073..92424731hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3844659
hg1944659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14568848, essv14568849
SamplesNA19466, NA19355
Known GenesC12orf79
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630370
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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