A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14521400



Internal ID3351663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68876767..68882380hg38UCSC Ensembl
chr12:69270547..69276160hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg385614
hg195614
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629861
Supporting Variants
SamplesHG03006
Known GenesCPM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14521400
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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