A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14520131



Internal ID4521947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68611952..68623274hg38UCSC Ensembl
chr12:69005732..69017054hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3811323
hg1911323
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629852
Supporting Variants
SamplesHG01815
Known GenesRAP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14520131
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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