A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633458



Internal ID6673580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106127915..106528334hg38UCSC Ensembl
chr13:106780264..107180682hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg38400420
hg19400419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14890281
SamplesHG00257
Known GenesEFNB2, LINC00460
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633458
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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