A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630065



Internal ID6670203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78876413..78958253hg38UCSC Ensembl
chr12:79270193..79352033hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3881841
hg1981841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14545513
SamplesHG02675
Known GenesSYT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630065
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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