A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14570302



Internal ID874714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92949656..92955890hg38UCSC Ensembl
chr12:93343432..93349666hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386235
hg196235
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630389
Supporting Variants
SamplesHG00464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14570302
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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