A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14346207



Internal ID4348023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6537046..6544615hg38UCSC Ensembl
chr12:6646212..6653781hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387570
hg197570
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628408
Supporting Variants
SamplesHG02941
Known GenesGAPDH, IFFO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14346207
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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