A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606917



Internal ID6993852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138100902..138112562hg38UCSC Ensembl
chr5:137436591..137448251hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3811661
hg1911661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12075704, essv12075703
SamplesHG00442, HG00513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606917
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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