A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607107



Internal ID6647349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148224310..148363295hg38UCSC Ensembl
chr5:147603873..147742858hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38138986
hg19138986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12092660
SamplesHG00476
Known GenesLOC102546294, SPINK13, SPINK7, SPINK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607107
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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