A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630068



Internal ID7016888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79065818..79236940hg38UCSC Ensembl
chr12:79459598..79630720hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38171123
hg19171123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14546340
SamplesHG01599
Known GenesSYT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630068
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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