A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631945



Internal ID6672070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44983484..45060952hg38UCSC Ensembl
chr13:45557619..45635087hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3877469
hg1977469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710744
SamplesHG03895
Known GenesGPALPP1, NUFIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631945
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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